V22I (p.Val22Ile) variant of PIK3CD (O00329)
V22I (p.Val22Ile) 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 and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- ExAC rs775849617
- gnomAD rs775849617
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.10
- CADD 21.90
- PolyPhen-2 0.12
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available