R61P (p.Arg61Pro) variant of ABCG5 (Q9H222)
R61P (p.Arg61Pro) 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.
R61P (p.Arg61Pro) variant details
- p.Arg61Pro
- ESP rs149599171
- ExAC rs149599171
- TOPMed rs149599171
- gnomAD rs149599171
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 14.50
- PolyPhen-2 0.11
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available