A4V (p.Ala4Val) variant of SETD5 (Q9C0A6)
A4V (p.Ala4Val) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 3-9428949-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.46
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available