R72C (p.Arg72Cys) variant of MLH3 (DNA mismatch repair protein Mlh3)
R72C (p.Arg72Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- rs370545907
- ClinGen CA7276073
- cosmic curated COSV53134
- ClinVar RCV004061027
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.46
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available