G54D (p.Gly54Asp) variant of PIK3R1 (P27986)
G54D (p.Gly54Asp) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- gnomAD rs1343380312
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.49
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available