P44T (p.Pro44Thr) variant of ABCG8 (Q9H221)
P44T (p.Pro44Thr) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P44T (p.Pro44Thr) variant details
- p.Pro44Thr
- rs770421664
- ClinGen CA1636895
- ClinVar RCV000731763
- ExAC rs770421664
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.12
- CADD 10.30
- PolyPhen-2 0.06
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available