P6T (p.Pro6Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
P6T (p.Pro6Thr) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 5-80654743-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available