Q82R (p.Gln82Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q82R (p.Gln82Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q82R (p.Gln82Arg) variant details
- p.Gln82Arg
- rs1398843008
- ClinGen CA390451263
- ClinVar RCV004326191
- TOPMed rs1398843008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.25
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available