V20F (p.Val20Phe) variant of PIK3CD (O00329)
V20F (p.Val20Phe) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V20F (p.Val20Phe) variant details
- p.Val20Phe
- gnomAD 1-9710513-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.51
- CADD 25.60
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available