C7Y (p.Cys7Tyr) variant of CASR (P41180)
C7Y (p.Cys7Tyr) 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; Epileps. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- rs2074528024
- ClinGen CA354361959
- ClinVar RCV001055733
- ClinVar RCV005029625
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Epileps
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 8.71
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available