A67T (p.Ala67Thr) variant of PIK3CD (O00329)
A67T (p.Ala67Thr) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- ExAC rs757517500
- gnomAD rs757517500
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.16
- CADD 24.60
- PolyPhen-2 0.61
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available