L9F (p.Leu9Phe) variant of SOST (Sclerostin)
L9F (p.Leu9Phe) 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 0.48 / 1. The record also includes population frequency data and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD rs769369803
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.36
- CADD 21.60
- PolyPhen-2 0.85
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available