G87D (p.Gly87Asp) variant of ADD1 (Alpha-adducin)
G87D (p.Gly87Asp) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G87D (p.Gly87Asp) variant details
- p.Gly87Asp
- rs1429127041
- gnomAD 4-2881962-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.17
- MetaSVM -0.76
- CADD 26.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available