T49N (p.Thr49Asn) variant of ATP7A (Copper-transporting ATPase 1)
T49N (p.Thr49Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- ExAC rs782681728
- gnomAD rs782681728
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.44
- CADD 14.90
- PolyPhen-2 0.39
- SIFT 0.27
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available