C7F (p.Cys7Phe) variant of CASR (P41180)
C7F (p.Cys7Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. 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.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- rs2074528024
- ClinGen CA354361961
- ClinVar RCV001043770
- Ensembl rs2074528024
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 12.40
- PolyPhen-2 0.05
- SIFT 0.57
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available