H79D (p.His79Asp) variant of MLH3 (DNA mismatch repair protein Mlh3)
H79D (p.His79Asp) 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 0.20 / 1. The record also includes population frequency data and structural context.
H79D (p.His79Asp) variant details
- p.His79Asp
- rs754850331
- ClinGen CA390451282
- ClinVar RCV004331399
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.25
- CADD 9.19
- PolyPhen-2 0.12
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available