V28F (p.Val28Phe) variant of PTH (Parathyroid hormone)
V28F (p.Val28Phe) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V28F (p.Val28Phe) variant details
- p.Val28Phe
- gnomAD rs1170883858
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.64
- CADD 10.20
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available