N41S (p.Asn41Ser) variant of PIK3CD (O00329)
N41S (p.Asn41Ser) in PIK3CD (O00329) is a missense change. 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.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- gnomAD 1-9710577-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.14
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available