L62H (p.Leu62His) variant of PIK3CD (O00329)
L62H (p.Leu62His) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L62H (p.Leu62His) variant details
- p.Leu62His
- gnomAD 1-9715578-A-ACATG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available