S20R (p.Ser20Arg) variant of PTH1R (Q03431)
S20R (p.Ser20Arg) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- TOPMed rs2030811984
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available