V28I (p.Val28Ile) variant of ADD1 (Alpha-adducin)
V28I (p.Val28Ile) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- gnomAD 4-2875997-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.08
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available