R9S (p.Arg9Ser) variant of PIK3R1 (P27986)
R9S (p.Arg9Ser) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 5-68226702-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available