I32F (p.Ile32Phe) variant of CASR (P41180)
I32F (p.Ile32Phe) 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 0.58 / 1. The record also includes population frequency data and structural context.
I32F (p.Ile32Phe) variant details
- p.Ile32Phe
- rs2074529687
- ClinGen CA354362118
- ClinVar RCV001341024
- TOPMed rs2074529687
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.32
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.56
- 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