S2A (p.Ser2Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
S2A (p.Ser2Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- rs1448308275
- ClinGen CA352059811
- ClinVar RCV001071771
- ClinVar RCV001093665
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- 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)