I22V (p.Ile22Val) variant of PIK3R1 (P27986)
I22V (p.Ile22Val) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- gnomAD 5-68226739-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.60
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available