R9C (p.Arg9Cys) variant of PIK3R1 (P27986)
R9C (p.Arg9Cys) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs993333376
- gnomAD 5-68239922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0873
- CADD 0.94
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Literature evidence available