H37R (p.His37Arg) variant of ATP7A (Copper-transporting ATPase 1)
H37R (p.His37Arg) in ATP7A (Copper-transporting ATPase 1) 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.
H37R (p.His37Arg) variant details
- p.His37Arg
- gnomAD X-77971751-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.28
- CADD 16.90
- PolyPhen-2 0.04
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available