A38E (p.Ala38Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
A38E (p.Ala38Glu) 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 0.86 / 1. The record also includes population frequency data and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- rs2503337048
- ClinGen CA390451554
- ClinVar RCV004366355
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available