D29E (p.Asp29Glu) variant of ADD1 (Alpha-adducin)
D29E (p.Asp29Glu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs2108893858
- gnomAD 4-2876002-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.15
- MetaSVM -0.95
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available