S13N (p.Ser13Asn) variant of MSH2 (DNA mismatch repair protein Msh2)
S13N (p.Ser13Asn) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in CRC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- rs63749907
- ClinGen CA10584201
- ClinVar RCV000235367
- ClinVar RCV000572196
- Benign
- in CRC
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM -0.12
- CADD 22.70
- EBI: Benign (in CRC)
- UniProt: Benign (in CRC)
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)