A23T (p.Ala23Thr) variant of APOA5 (Apolipoprotein A-V)
A23T (p.Ala23Thr) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available