V18M (p.Val18Met) variant of PTH1R (Q03431)
V18M (p.Val18Met) in PTH1R (Q03431) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- rs772304416
- ExAC rs772304416
- TOPMed rs772304416
- gnomAD rs772304416
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available