S27F (p.Ser27Phe) variant of PTH (Parathyroid hormone)
S27F (p.Ser27Phe) in PTH (Parathyroid hormone) 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 0.32 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56378
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.62
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available