E127K (p.Glu127Lys) variant of CASR (P41180)
E127K (p.Glu127Lys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
E127K (p.Glu127Lys) variant details
- p.Glu127Lys
- rs2074565202
- ClinGen CA354362773
- ClinVar RCV001255709
- ClinVar RCV001586094
- Pathogenic/Likely pathogenic
- Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.56
- MetaLR 0.63
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (Neonatal severe primary hyperparathyroidism; Familial hypocalciu)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available