W54R (p.Trp54Arg) variant of PTH (Parathyroid hormone)
W54R (p.Trp54Arg) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
W54R (p.Trp54Arg) variant details
- p.Trp54Arg
- cosmic curated COSV10958
- ExAC rs771537090
- gnomAD rs771537090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.88
- MetaLR 0.81
- MetaSVM 0.77
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available