K52R (p.Lys52Arg) variant of CASR (P41180)
K52R (p.Lys52Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- rs1553765922
- ClinGen CA354362249
- ClinVar RCV002232611
- Ensembl rs1553765922
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.08
- MetaLR 0.42
- MetaSVM -0.43
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.52
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available