D49N (p.Asp49Asn) variant of ATP7B (Copper-transporting ATPase 2)
D49N (p.Asp49Asn) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- ExAC rs757592124
- gnomAD rs757592124
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available