T151M (p.Thr151Met) variant of CASR (P41180)
T151M (p.Thr151Met) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia; Autosomal dominant hypocalcemia 1; Familial hyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T151M (p.Thr151Met) variant details
- p.Thr151Met
- rs104893694
- ClinGen CA119485
- NCI-TCGA Cosmic COSV5613
- Pathogenic
- Autosomal dominant hypocalcemia; Autosomal dominant hypocalcemia 1; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia; Autosomal dominant hypocalcemia)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. (PMID 8698326)
- Cited in: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. (PMID 8813042)