P132L (p.Pro132Leu) variant of PTH1R (Q03431)
P132L (p.Pro132Leu) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Eiken syndrome; Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P132L (p.Pro132Leu) variant details
- p.Pro132Leu
- rs121434599
- ClinGen CA123425
- ClinVar RCV000014752
- ClinVar RCV002482867
- Pathogenic
- Eiken syndrome; Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.83
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Eiken syndrome; Chondrodysplasia Blomstrand type; Metaphyseal ch)
- EBI: Pathogenic (in BOCD)
- UniProt: Pathogenic (in BOCD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. (PMID 10664159)
- Cited in: Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand… (PMID 17164305)