V21L (p.Val21Leu) variant of SOST (Sclerostin)
V21L (p.Val21Leu) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Craniodiaphyseal dysplasia, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- rs387907169
- ClinGen CA399703409
- ClinVar RCV000024298
- UniProt VAR 065766
- Pathogenic
- Craniodiaphyseal dysplasia, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.11
- MetaLR 0.35
- MetaSVM -0.67
- PolyPhen-2 0.02
- SIFT 0.17
- EVE 0.10
- ClinVar: Pathogenic (Craniodiaphyseal dysplasia, autosomal dominant)
- EBI: Pathogenic (in CDD)
- UniProt: Pathogenic (in CDD)
- Structural context available
- Cited in: A boy with severe craniodiaphyseal dysplasia and apparently normal mother. (PMID 17853455)
- Cited in: Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. (PMID 21221996)