D24H (p.Asp24His) variant of SETD5 (Q9C0A6)
D24H (p.Asp24His) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D24H (p.Asp24His) variant details
- p.Asp24His
- gnomAD 3-9429008-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available