V62M (p.Val62Met) variant of PTH (Parathyroid hormone)
V62M (p.Val62Met) 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 0.47 / 1. The record also includes population frequency data and structural context.
V62M (p.Val62Met) variant details
- p.Val62Met
- cosmic curated COSV56378
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.49
- MetaLR 0.52
- MetaSVM 0.06
- CADD 21.80
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available