D6H (p.Asp6His) variant of PIK3CD (O00329)
D6H (p.Asp6His) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- gnomAD 1-9710471-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available