M78V (p.Met78Val) variant of POLG (DNA polymerase subunit gamma-1)
M78V (p.Met78Val) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
M78V (p.Met78Val) variant details
- p.Met78Val
- ExAC rs767576217
- gnomAD rs767576217
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.92
- CADD 25.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available