H79Q (p.His79Gln) variant of MLH3 (DNA mismatch repair protein Mlh3)
H79Q (p.His79Gln) 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 0.35 / 1. The record also includes population frequency data and structural context.
H79Q (p.His79Gln) variant details
- p.His79Gln
- rs1892513422
- ClinGen CA390451278
- ClinVar RCV004063351
- TOPMed rs1892513422
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available