L51F (p.Leu51Phe) variant of CASR (P41180)
L51F (p.Leu51Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- rs996249687
- ClinGen CA82607604
- ClinVar RCV001228902
- ClinVar RCV004032653
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 1.00
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available