H20Q (p.His20Gln) variant of ADD1 (Alpha-adducin)
H20Q (p.His20Gln) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- gnomAD 4-2875975-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.13
- MetaSVM -1.02
- CADD 22.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available