F27C (p.Phe27Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
F27C (p.Phe27Cys) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F27C (p.Phe27Cys) variant details
- p.Phe27Cys
- gnomAD 5-80654807-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.69
- CADD 29.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available