D6N (p.Asp6Asn) variant of PIK3CD (O00329)
D6N (p.Asp6Asn) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- TOPMed rs879660382
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available