D6G (p.Asp6Gly) variant of PIK3CD (O00329)
D6G (p.Asp6Gly) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- rs749032083
- ClinGen CA576762
- ClinVar RCV001308996
- ClinVar RCV004691409
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)