R64Q (p.Arg64Gln) variant of SOST (Sclerostin)
R64Q (p.Arg64Gln) in SOST (Sclerostin) 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 0.73 / 1. The record also includes population frequency data and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs760682674
- ClinGen CA8592849
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV000728031
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.67
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available