A61T (p.Ala61Thr) variant of APOA1 (Apolipoprotein A-I)
A61T (p.Ala61Thr) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hypoalphalipoproteinemia, primary, 2, intermediate; Cardiovascular phenotype; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- rs12718465
- ClinGen CA6289875
- cosmic curated COSV10584
- ClinVar RCV000335636
- Benign
- Hypoalphalipoproteinemia, primary, 2, intermediate; Cardiovascular phenotype; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.0716
- REVEL 0.04
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Benign (Hypoalphalipoproteinemia, primary, 2, intermediate; Cardiovascul)
- EBI: Benign (in dbSNP:rs12718465)
- UniProt: Benign (in dbSNP:rs12718465)
- Most common in the HGDP:DAI population (allele frequency 0.11)
- Structural context available
- Cited in: The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. (PMID 15108119)
- Cited in: Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. (PMID 1901417)