P31L (p.Pro31Leu) variant of ATP7B (Copper-transporting ATPase 2)
P31L (p.Pro31Leu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ATP7B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD rs1373365533
- Uncertain significance
- ATP7B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (ATP7B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available