S5C (p.Ser5Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
S5C (p.Ser5Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 2-47783246-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.54
- CADD 26.40
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available