D68A (p.Asp68Ala) variant of PIK3R1 (P27986)
D68A (p.Asp68Ala) 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.
D68A (p.Asp68Ala) variant details
- p.Asp68Ala
- gnomAD 5-68226878-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available