L10I (p.Leu10Ile) variant of CASR (P41180)
L10I (p.Leu10Ile) 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 0.27 / 1. The record also includes population frequency data and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- rs1327682547
- ClinGen CA354361979
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56134
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.06
- 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