N41S (p.Asn41Ser) variant of PTH (Parathyroid hormone)
N41S (p.Asn41Ser) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- rs387907454
- ClinGen CA216050
- ClinVar RCV000054581
- Ensembl rs387907454
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.15
- MetaLR 0.53
- MetaSVM -0.01
- PolyPhen-2 0.34
- SIFT 0.04
- EVE 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available