C395R (p.Cys395Arg) variant of CASR (P41180)
C395R (p.Cys395Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C395R (p.Cys395Arg) variant details
- p.Cys395Arg
- rs1057517712
- ClinGen CA16042449
- ClinVar RCV000413522
- ClinVar RCV002523905
- Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available