P55L (p.Pro55Leu) variant of CASR (P41180)
P55L (p.Pro55Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs886041154
- ClinGen CA10602861
- ClinVar RCV000401051
- ClinVar RCV000815977
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric… (PMID 8636323)