P31S (p.Pro31Ser) variant of LOX (Protein-lysine 6-oxidase)
P31S (p.Pro31Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1307475150
- ClinGen CA360878479
- ClinVar RCV003988511
- ClinVar RCV006564557
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.04
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available