L34P (p.Leu34Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
L34P (p.Leu34Pro) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- gnomAD 5-80654828-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.40
- CADD 28.80
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available