L3F (p.Leu3Phe) variant of SOST (Sclerostin)
L3F (p.Leu3Phe) in SOST (Sclerostin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- rs745735992
- NCI-TCGA Cosmic COSV5701
- ExAC rs745735992
- TOPMed rs745735992
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available