A73T (p.Ala73Thr) variant of ATP7A (Copper-transporting ATPase 1)
A73T (p.Ala73Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- cosmic curated COSV58448
- gnomAD rs1557231579
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.54
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available