S17L (p.Ser17Leu) variant of SETD5 (Q9C0A6)
S17L (p.Ser17Leu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- gnomAD 3-9428988-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.87
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available