G41R (p.Gly41Arg) variant of SOST (Sclerostin)
G41R (p.Gly41Arg) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- rs574411567
- NCI-TCGA Cosmic COSV5701
- 1000Genomes rs574411567
- ExAC rs574411567
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available