A98T (p.Ala98Thr) variant of ATP7B (Copper-transporting ATPase 2)
A98T (p.Ala98Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- ExAC rs751868519
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available