S28P (p.Ser28Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
S28P (p.Ser28Pro) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- rs1223620783
- ClinGen CA346734803
- ClinVar RCV000811986
- ClinVar RCV002424909
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.30
- MetaLR 0.36
- MetaSVM -0.53
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)