A32T (p.Ala32Thr) variant of ABCG5 (Q9H222)
A32T (p.Ala32Thr) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs758017120
- ClinGen CA1636804
- ClinVar RCV000503124
- ExAC rs758017120
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 2.16
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00087)
- Structural context available