D6A (p.Asp6Ala) variant of PIK3CD (O00329)
D6A (p.Asp6Ala) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D6A (p.Asp6Ala) variant details
- p.Asp6Ala
- rs749032083
- ClinGen CA17769061
- ClinVar RCV001318415
- ExAC rs749032083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)