V10I (p.Val10Ile) variant of SOST (Sclerostin)
V10I (p.Val10Ile) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Sclerosteosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs17882143
- ClinGen CA8592903
- ClinVar RCV000360798
- ClinVar RCV002056602
- Benign
- not provided; Sclerosteosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0964
- REVEL 0.12
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Benign (not provided; Sclerosteosis 1)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BASQUE population (allele frequency 0.068)
- Structural context available
- Cited in: SOST-Related Sclerosing Bone Dysplasias. (PMID 36508511)