T14A (p.Thr14Ala) variant of CASR (P41180)
T14A (p.Thr14Ala) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- rs199515839
- ClinGen CA2569406
- ClinVar RCV000524604
- ClinVar RCV001770431
- Conflicting interpretations
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Conflicting classifications of pathogenicity (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in… (PMID 15879434)