N41K (p.Asn41Lys) variant of PTH (Parathyroid hormone)
N41K (p.Asn41Lys) 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 0.62 / 1. The record also includes structural context.
N41K (p.Asn41Lys) variant details
- p.Asn41Lys
- rs755183877
- ClinGen CA379724792
- ClinVar RCV001108379
- ExAC rs755183877
- Uncertain significance
- Familial hypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.19
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Familial hypoparathyroidism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available