P48L (p.Pro48Leu) variant of SOST (Sclerostin)
P48L (p.Pro48Leu) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sclerosteosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs779039644
- ClinGen CA8592863
- ClinVar RCV001122500
- ExAC rs779039644
- Uncertain significance
- Sclerosteosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.10
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Sclerosteosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Cited in: SOST-Related Sclerosing Bone Dysplasias. (PMID 36508511)