P39A (p.Pro39Ala) variant of CASR (P41180)
P39A (p.Pro39Ala) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- rs121909262
- ClinGen CA119499
- ClinVar RCV000008832
- UniProt VAR 003585
- Pathogenic
- Familial hypocalciuric hypercalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.12
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia 1)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. (PMID 7673400)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)