S13R (p.Ser13Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
S13R (p.Ser13Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- rs1060502015
- ClinGen CA16610974
- ClinVar RCV000471952
- ClinVar RCV000574312
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.60
- ESM-1b 0.17
- AlphaMissense 0.72
- MetaLR 0.53
- MetaSVM -0.26
- CADD 22.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign (in CRC)
- UniProt: Likely benign (in CRC)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)