N64S (p.Asn64Ser) variant of PTH (Parathyroid hormone)
N64S (p.Asn64Ser) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- rs1370035454
- ClinGen CA379724641
- ClinVar RCV001108378
- TOPMed rs1370035454
- Uncertain significance
- Familial hypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.27
- PolyPhen-2 0.98
- SIFT 0.45
- EVE 0.13
- ClinVar: Uncertain significance (Familial hypoparathyroidism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available