S2S (p.Ser2Ser) variant of PIK3R1 (P27986)
S2S (p.Ser2Ser) in PIK3R1 (P27986) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 5-68226681-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.59
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available