R61Q (p.Arg61Gln) variant of ABCG5 (Q9H222)
R61Q (p.Arg61Gln) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Sitosterolemia 2; Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- rs149599171
- ClinGen CA1636752
- ClinVar RCV000362294
- ClinVar RCV000523427
- Uncertain significance
- not provided; Sitosterolemia 2; Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 5.22
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Sitosterolemia 2; Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)