D65E (p.Asp65Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
D65E (p.Asp65Glu) 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 0.47 / 1. The record also includes population frequency data and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs746192170
- ClinGen CA7276078
- ClinVar RCV004521142
- ExAC rs746192170
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.64
- CADD 21.00
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available