A32T (p.Ala32Thr) variant of ATP7B (Copper-transporting ATPase 2)
A32T (p.Ala32Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- ExAC rs748005861
- gnomAD rs748005861
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available