V30I (p.Val30Ile) variant of PIK3CD (O00329)
V30I (p.Val30Ile) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- TOPMed rs1382575108
- gnomAD rs1382575108
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available