C582S (p.Cys582Ser) variant of CASR (P41180)
C582S (p.Cys582Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
C582S (p.Cys582Ser) variant details
- p.Cys582Ser
- rs2074920676
- ClinGen CA354157111
- ClinVar RCV001058244
- ClinVar RCV004726846
- Likely pathogenic
- not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (not provided; Autosomal dominant hypocalcemia 1; Familial hypoca)
- EBI: Likely pathogenic (in NSHPT and HHC1)
- UniProt: Likely pathogenic (in NSHPT and HHC1)
- Structural context available