R18G (p.Arg18Gly) variant of PIK3R1 (P27986)
R18G (p.Arg18Gly) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- gnomAD 5-68226727-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available