P119L (p.Pro119Leu) variant of PTH1R (Q03431)
P119L (p.Pro119Leu) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Chondrodysplasia Blomstrand type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- gnomAD rs1364327639
- Likely pathogenic
- Chondrodysplasia Blomstrand type
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.61
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Chondrodysplasia Blomstrand type)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available