R9L (p.Arg9Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
R9L (p.Arg9Leu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD rs1274810165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.70
- MetaSVM 0.45
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available