P53A (p.Pro53Ala) variant of ATP7B (Copper-transporting ATPase 2)
P53A (p.Pro53Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- ExAC rs751956663
- gnomAD rs751956663
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available