T49S (p.Thr49Ser) variant of ATP7A (Copper-transporting ATPase 1)
T49S (p.Thr49Ser) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- gnomAD X-77988267-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.33
- CADD 13.40
- PolyPhen-2 0.09
- SIFT 0.38
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available