G9V (p.Gly9Val) variant of PTH1R (Q03431)
G9V (p.Gly9Val) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary failure of tooth eruption; Metaphyseal chondrodysplasia, Jansen type; Ei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- TOPMed rs975589924
- gnomAD rs975589924
- Uncertain significance
- Primary failure of tooth eruption; Metaphyseal chondrodysplasia, Jansen type; Ei
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Primary failure of tooth eruption; Metaphyseal chondrodysplasia,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available