T14I (p.Thr14Ile) variant of CASR (P41180)
T14I (p.Thr14Ile) 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 0.48 / 1. The record also includes structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs1235999733
- ClinGen CA354362006
- ClinVar RCV000705581
- gnomAD rs1235999733
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM 0.16
- PolyPhen-2 0.03
- SIFT 0.05
- MutPred 0.50
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available