Y16C (p.Tyr16Cys) variant of SETD5 (Q9C0A6)
Y16C (p.Tyr16Cys) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- gnomAD 3-9428985-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.77
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available