P31A (p.Pro31Ala) variant of ATP7B (Copper-transporting ATPase 2)
P31A (p.Pro31Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- ExAC rs771981995
- gnomAD rs771981995
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available