I554F (p.Ile554Phe) variant of CASR (P41180)
I554F (p.Ile554Phe) 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; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
I554F (p.Ile554Phe) variant details
- p.Ile554Phe
- rs2074897865
- ClinGen CA354156217
- ClinVar RCV001054888
- ClinVar RCV004031736
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.78
- MetaLR 0.78
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.23
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available