G9S (p.Gly9Ser) variant of PTH1R (Q03431)
G9S (p.Gly9Ser) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs2545000601
- ClinGen CA352502923
- ClinVar RCV002294825
- ClinVar RCV003269164
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-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)