D23G (p.Asp23Gly) variant of PIK3R1 (P27986)
D23G (p.Asp23Gly) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- gnomAD 5-68226743-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- CADD 26.90
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available