E67D (p.Glu67Asp) variant of MLH3 (DNA mismatch repair protein Mlh3)
E67D (p.Glu67Asp) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- cosmic curated COSV53135
- ExAC rs771298368
- gnomAD rs771298368
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 7.71
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available