R185L (p.Arg185Leu) variant of CASR (P41180)
R185L (p.Arg185Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
R185L (p.Arg185Leu) variant details
- p.Arg185Leu
- rs104893689
- ClinGen CA354150837
- ClinVar RCV001526960
- ClinVar RCV003771627
- Conflicting interpretations
- not provided; not specified; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Familial hypocalciuric hypercalcemi)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available