A15T (p.Ala15Thr) variant of ABCG8 (Q9H221)
A15T (p.Ala15Thr) in ABCG8 (Q9H221) 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 0.16 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs761344788
- ClinGen CA1636858
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99575
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.25
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available