P36T (p.Pro36Thr) variant of LOX (Protein-lysine 6-oxidase)
P36T (p.Pro36Thr) 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 provided. 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.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- rs752726099
- ClinGen CA360878374
- ClinVar RCV003832562
- ExAC rs752726099
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.05
- CADD 18.00
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available