H79R (p.His79Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
H79R (p.His79Arg) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H79R (p.His79Arg) variant details
- p.His79Arg
- rs753528013
- ClinGen CA7276069
- ClinVar RCV000796376
- ClinVar RCV004027563
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.27
- CADD 4.04
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)