M1V (p.Met1Val) variant of CASR (P41180)
M1V (p.Met1Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2107624704
- ClinGen CA354361910
- ClinVar RCV001779505
- ClinVar RCV005213591
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.56
- MetaSVM 0.10
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.84
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available