A23T (p.Ala23Thr) variant of LCAT (P04180)
A23T (p.Ala23Thr) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs544182517
- ClinGen CA283164386
- ClinVar RCV002369481
- TOPMed rs544182517
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.30
- CADD 0.84
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available