R18L (p.Arg18Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
R18L (p.Arg18Leu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- gnomAD 3-36993600-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available