P12L (p.Pro12Leu) variant of ABCG8 (Q9H221)
P12L (p.Pro12Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs760005338
- ClinGen CA1636855
- ClinVar RCV000730773
- ExAC rs760005338
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.17
- CADD 1.50
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available