R43H (p.Arg43His) variant of PTH1R (Q03431)
R43H (p.Arg43His) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Primary failure of tooth eruption; Chondrodysplasia Blo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs141466964
- ClinGen CA2359084
- ClinVar RCV000336084
- ClinVar RCV000394373
- Conflicting interpretations
- Inborn genetic diseases; Primary failure of tooth eruption; Chondrodysplasia Blo
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- CADD 26.60
- PolyPhen-2 0.45
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Primary failure of tooth eruption; Chon)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- 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)