E67K (p.Glu67Lys) variant of MLH3 (DNA mismatch repair protein Mlh3)
E67K (p.Glu67Lys) 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.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs781749227
- ClinGen CA7276077
- ClinVar RCV004061719
- ExAC rs781749227
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available