R25L (p.Arg25Leu) variant of CASR (P41180)
R25L (p.Arg25Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs568902441
- ClinGen CA82607490
- cosmic curated COSV56138
- ClinVar RCV001884705
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 24.60
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available