C60F (p.Cys60Phe) variant of CASR (P41180)
C60F (p.Cys60Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C60F (p.Cys60Phe) variant details
- p.Cys60Phe
- rs772906030
- ClinGen CA354362303
- ClinVar RCV002233556
- ClinVar RCV002473113
- Uncertain significance
- not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial hypocalciuric hypercalcemia; Autosomal do)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available