R50P (p.Arg50Pro) variant of ABCG5 (Q9H222)
R50P (p.Arg50Pro) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- 1000Genomes rs200036521
- ExAC rs200036521
- TOPMed rs200036521
- gnomAD rs200036521
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 16.80
- PolyPhen-2 0.52
- SIFT 0.02
- EBI: Variant of uncertain significance (in dbSNP:rs6756629)
- UniProt: Uncertain significance (in dbSNP:rs6756629)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available