D18V (p.Asp18Val) variant of SETD5 (Q9C0A6)
D18V (p.Asp18Val) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- gnomAD 3-9428991-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available