P6T (p.Pro6Thr) variant of LRP5 (O75197)
P6T (p.Pro6Thr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs771718186
- ClinGen CA6148887
- ClinVar RCV000592927
- ClinVar RCV000712232
- Benign/Likely benign
- not provided; not specified; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- CADD 9.41
- PolyPhen-2 0.00
- ClinVar: Benign/Likely benign (not provided; not specified; Osteogenesis imperfecta)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAYA population (allele frequency 0.18)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)