C7S (p.Cys7Ser) variant of CASR (P41180)
C7S (p.Cys7Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C7S (p.Cys7Ser) variant details
- p.Cys7Ser
- rs2074528024
- ClinGen CA354361960
- ClinVar RCV002023510
- Ensembl rs2074528024
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 12.90
- PolyPhen-2 0.06
- SIFT 0.30
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available