A22S (p.Ala22Ser) variant of MSH3 (DNA mismatch repair protein Msh3)
A22S (p.Ala22Ser) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- Ensembl rs1749190439
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.06
- AlphaMissense 0.14
- MetaLR 0.40
- MetaSVM -0.74
- CADD 17.60
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available