I40V (p.Ile40Val) variant of CASR (P41180)
I40V (p.Ile40Val) 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; Epileps. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- rs1458833527
- ClinGen CA354362166
- ClinVar RCV001062218
- ClinVar RCV002489676
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Epileps
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 19.40
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available