M811V (p.Met811Val) variant of CASR (P41180)
M811V (p.Met811Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant hypocalcemia; not provided; Familial hypocalciuric hypercalce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
M811V (p.Met811Val) variant details
- p.Met811Val
- rs1057521129
- ClinGen CA16604354
- ClinVar RCV000440135
- ClinVar RCV002519527
- Likely pathogenic
- Autosomal dominant hypocalcemia; not provided; Familial hypocalciuric hypercalce
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- MutPred 0.90
- ClinVar: Likely pathogenic (Autosomal dominant hypocalcemia; not provided; Familial hypocalc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available