A2T (p.Ala2Thr) variant of CASR (P41180)
A2T (p.Ala2Thr) in CASR (P41180) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis. The record also includes structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- NCI-TCGA Cosmic COSV9994
- cosmic curated COSV99949
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- UniProt: Uncertain significance
- Structural context available