A73V (p.Ala73Val) variant of ATP7A (Copper-transporting ATPase 1)
A73V (p.Ala73Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- gnomAD X-77988339-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- CADD 19.40
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available