P36S (p.Pro36Ser) variant of LOX (Protein-lysine 6-oxidase)
P36S (p.Pro36Ser) 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 0.14 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- ExAC rs752726099
- gnomAD rs752726099
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available