V98F (p.Val98Phe) variant of PIK3CD (O00329)
V98F (p.Val98Phe) 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.
V98F (p.Val98Phe) variant details
- p.Val98Phe
- gnomAD 1-9715691-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.25
- MetaLR 0.22
- MetaSVM -0.80
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available