F3C (p.Phe3Cys) variant of MLH1 (DNA mismatch repair protein Mlh1)
F3C (p.Phe3Cys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
F3C (p.Phe3Cys) variant details
- p.Phe3Cys
- Ensembl rs2125693369
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.60
- MetaSVM 0.09
- SIFT 0.15
- Structural context available