D6V (p.Asp6Val) variant of PIK3CD (O00329)
D6V (p.Asp6Val) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D6V (p.Asp6Val) variant details
- p.Asp6Val
- gnomAD 1-9710472-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available