V58A (p.Val58Ala) variant of ADD1 (Alpha-adducin)
V58A (p.Val58Ala) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- cosmic curated COSV53276
- gnomAD rs1389738240
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.44
- CADD 27.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available