A2T (p.Ala2Thr) variant of ABCG8 (Q9H221)
A2T (p.Ala2Thr) in ABCG8 (Q9H221) 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 0.28 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- NCI-TCGA Cosmic COSV5321
- cosmic curated COSV53210
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- CADD 15.10
- PolyPhen-2 0.25
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available