S2P (p.Ser2Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
S2P (p.Ser2Pro) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. 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.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- gnomAD 5-80654731-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.19
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available