T46S (p.Thr46Ser) variant of LCAT (P04180)
T46S (p.Thr46Ser) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- rs761720102
- ClinGen CA8121172
- ClinVar RCV002383664
- ExAC rs761720102
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available