L10F (p.Leu10Phe) variant of CASR (P41180)
L10F (p.Leu10Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1327682547
- ClinGen CA354361981
- ClinVar RCV001047886
- ClinVar RCV004601342
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available