R795W (p.Arg795Trp) variant of CASR (P41180)
R795W (p.Arg795Trp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R795W (p.Arg795Trp) variant details
- p.Arg795Trp
- rs121909258
- ClinGen CA119467
- ClinVar RCV000008810
- ClinVar RCV000517736
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Population evidence available
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal… (PMID 22114145)