R231Q (p.Arg231Gln) variant of SLC2A10 (O95528)
R231Q (p.Arg231Gln) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arterial tortuosity syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R231Q (p.Arg231Gln) variant details
- p.Arg231Gln
- rs771028960
- ClinGen CA346910
- ClinVar RCV000185549
- ClinVar RCV000251075
- Pathogenic
- Arterial tortuosity syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.75
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Arterial tortuosity syndrome; Cardiovascular phenotype)
- EBI: Pathogenic (in ATORS)
- UniProt: Pathogenic (in ATORS)
- Population evidence available
- Structural context available
- Cited in: Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (PMID 17935213)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)