L50V (p.Leu50Val) variant of SOST (Sclerostin)
L50V (p.Leu50Val) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- 1000Genomes rs559177656
- ExAC rs559177656
- TOPMed rs559177656
- gnomAD rs559177656
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available