G2A (p.Gly2Ala) variant of PTH1R (Q03431)
G2A (p.Gly2Ala) 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 0.40 / 1. The record also includes population frequency data and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD rs1312508427
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available