S2N (p.Ser2Asn) variant of PIK3R1 (P27986)
S2N (p.Ser2Asn) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- gnomAD 5-68226680-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.26
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available