Q82H (p.Gln82His) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q82H (p.Gln82His) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q82H (p.Gln82His) variant details
- p.Gln82His
- rs1407041352
- TOPMed rs1407041352
- gnomAD rs1407041352
- ClinGen CA390451260
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.43
- CADD 21.90
- PolyPhen-2 0.75
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available