A46T (p.Ala46Thr) variant of PTH1R (Q03431)
A46T (p.Ala46Thr) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Chondrodysplasia Blomstrand type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs201320537
- ClinGen CA2359087
- cosmic curated COSV57316
- ClinVar RCV003087114
- Uncertain significance
- not provided; Inborn genetic diseases; Chondrodysplasia Blomstrand type
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.31
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Chondrodysplasia Blomstra)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)