A46D (p.Ala46Asp) variant of PTH1R (Q03431)
A46D (p.Ala46Asp) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia, Jansen type; Pri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A46D (p.Ala46Asp) variant details
- p.Ala46Asp
- rs199670451
- ClinGen CA2359088
- ClinVar RCV001145804
- ClinVar RCV001145805
- Conflicting interpretations
- Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia, Jansen type; Pri
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.08
- CADD 21.20
- PolyPhen-2 0.23
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Chondrodysplasia Blomstrand type; Metaphyseal chondrodysplasia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available