A242T (p.Ala242Thr) variant of LRP5 (O75197)
A242T (p.Ala242Thr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Skeletal dysplasia; Worth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A242T (p.Ala242Thr) variant details
- p.Ala242Thr
- rs121908670
- ClinGen CA118097
- ClinVar RCV000006660
- ClinVar RCV000006661
- Pathogenic/Likely pathogenic
- not provided; Skeletal dysplasia; Worth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.95
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Skeletal dysplasia; Worth disease)
- EBI: Pathogenic (in OPTA1, VBCH2 and WENHY)
- UniProt: Pathogenic (in OPTA1, VBCH2 and WENHY)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Endosteal hyperostosis. (PMID 1002767)
- Cited in: [Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. (PMID 10434540)