P82L (p.Pro82Leu) variant of ATP7A (Copper-transporting ATPase 1)
P82L (p.Pro82Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- gnomAD X-77988366-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.36
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available