R72L (p.Arg72Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
R72L (p.Arg72Leu) in MLH3 (DNA mismatch repair protein Mlh3) 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 0.57 / 1. The record also includes population frequency data and structural context.
R72L (p.Arg72Leu) variant details
- p.Arg72Leu
- rs748434126
- ClinGen CA390451330
- ClinVar RCV004061064
- ExAC rs748434126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.41
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available