I51V (p.Ile51Val) variant of ATP7A (Copper-transporting ATPase 1)
I51V (p.Ile51Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- gnomAD rs1557231564
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.37
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available