K68E (p.Lys68Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
K68E (p.Lys68Glu) 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 0.37 / 1. The record also includes population frequency data and structural context.
K68E (p.Lys68Glu) variant details
- p.Lys68Glu
- rs375069317
- ClinGen CA7276075
- ClinVar RCV004281545
- ESP rs375069317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.25
- CADD 24.90
- PolyPhen-2 0.72
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available