H43L (p.His43Leu) variant of SETD5 (Q9C0A6)
H43L (p.His43Leu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
H43L (p.His43Leu) variant details
- p.His43Leu
- rs1175406797
- gnomAD 3-9429872-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available