P31A (p.Pro31Ala) variant of LOX (Protein-lysine 6-oxidase)
P31A (p.Pro31Ala) in LOX (Protein-lysine 6-oxidase) 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 0.16 / 1. The record also includes population frequency data and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- TOPMed rs1307475150
- gnomAD rs1307475150
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available