N41D (p.Asn41Asp) variant of ATP7B (Copper-transporting ATPase 2)
N41D (p.Asn41Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- 1000Genomes rs536682013
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.72
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available