T244M (p.Thr244Met) variant of LRP5 (O75197)
T244M (p.Thr244Met) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteoporosis with pseudoglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T244M (p.Thr244Met) variant details
- p.Thr244Met
- rs397514665
- ClinGen CA130818
- ClinVar RCV000033259
- UniProt VAR 063946
- Pathogenic
- Osteoporosis with pseudoglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.97
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Osteoporosis with pseudoglioma)
- EBI: Pathogenic (in OPPG)
- UniProt: Pathogenic (in OPPG)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (PMID 16252235)
- Cited in: Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb… (PMID 20034086)