V21M (p.Val21Met) variant of PIK3CD (O00329)
V21M (p.Val21Met) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- gnomAD 1-9710516-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.07
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available