T14N (p.Thr14Asn) variant of CASR (P41180)
T14N (p.Thr14Asn) 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 0.39 / 1. The record also includes population frequency data and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- rs1235999733
- ClinGen CA354362004
- ClinVar RCV001339077
- gnomAD rs1235999733
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM 0.16
- CADD 7.20
- PolyPhen-2 0.03
- SIFT 0.05
- 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