T138M (p.Thr138Met) variant of CASR (P41180)
T138M (p.Thr138Met) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism or Hypocalciuric. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
T138M (p.Thr138Met) variant details
- p.Thr138Met
- rs121909263
- ClinGen CA119501
- cosmic curated COSV10880
- ClinVar RCV000008834
- Pathogenic/Likely pathogenic
- Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism or Hypocalciuric
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.61
- MetaLR 0.66
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.11
- ClinVar: Pathogenic/Likely pathogenic (Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism o)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (PMID 7726161)