T49A (p.Thr49Ala) variant of ATP7A (Copper-transporting ATPase 1)
T49A (p.Thr49Ala) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- gnomAD X-77988266-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.16
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available