Y53C (p.Tyr53Cys) variant of APOA1 (Apolipoprotein A-I)
Y53C (p.Tyr53Cys) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of APOA1-related disorder; Hypoalphalipoproteinemia, primary, 2, intermediate; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs750185173
- ClinGen CA6289881
- ClinVar RCV001193576
- ClinVar RCV001876253
- Uncertain significance
- APOA1-related disorder; Hypoalphalipoproteinemia, primary, 2, intermediate; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.29
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Uncertain significance (APOA1-related disorder; Hypoalphalipoproteinemia, primary, 2, in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available