P15A (p.Pro15Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
P15A (p.Pro15Ala) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- rs776745497
- ClinGen CA346734536
- ClinVar RCV000575336
- ClinVar RCV000824221
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.35
- MetaLR 0.40
- MetaSVM -0.29
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)