R69S (p.Arg69Ser) variant of CASR (P41180)
R69S (p.Arg69Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal severe primary hyperparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- rs1313627454
- ClinGen CA354362379
- ClinVar RCV002466850
- Likely pathogenic
- Neonatal severe primary hyperparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.92
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Neonatal severe primary hyperparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available