K14E (p.Lys14Glu) variant of PIK3CD (O00329)
K14E (p.Lys14Glu) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- gnomAD 1-9710495-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available