D28N (p.Asp28Asn) variant of PIK3R1 (P27986)
D28N (p.Asp28Asn) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- gnomAD 5-68226757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.42
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available