S13T (p.Ser13Thr) variant of MSH2 (DNA mismatch repair protein Msh2)
S13T (p.Ser13Thr) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S13T (p.Ser13Thr) variant details
- p.Ser13Thr
- gnomAD 2-47403229-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available