Q10H (p.Gln10His) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q10H (p.Gln10His) 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 0.69 / 1. The record also includes structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- rs1892533111
- ClinGen CA390451950
- ClinVar RCV004048328
- Ensembl rs1892533111
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.61
- MetaLR 0.71
- MetaSVM 0.36
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available