G8R (p.Gly8Arg) variant of SETD5 (Q9C0A6)
G8R (p.Gly8Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- gnomAD 3-9428960-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.54
- CADD 26.30
- PolyPhen-2 0.66
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available