A23P (p.Ala23Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
A23P (p.Ala23Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- rs730881810
- ClinGen CA16617616
- cosmic curated COSV10509
- ClinVar RCV000482378
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- MetaLR 0.36
- MetaSVM -0.79
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)