Q7L (p.Gln7Leu) variant of PIK3R1 (P27986)
Q7L (p.Gln7Leu) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q7L (p.Gln7Leu) variant details
- p.Gln7Leu
- TOPMed rs1744287849
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.37
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available