R72H (p.Arg72His) variant of MLH3 (DNA mismatch repair protein Mlh3)
R72H (p.Arg72His) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- rs748434126
- ClinGen CA7276072
- cosmic curated COSV53134
- ClinVar RCV003101096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.37
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)