R220Q (p.Arg220Gln) variant of CASR (P41180)
R220Q (p.Arg220Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R220Q (p.Arg220Gln) variant details
- p.Arg220Gln
- rs1202110240
- ClinGen CA354151067
- cosmic curated COSV56141
- ClinVar RCV000523669
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.44
- MetaLR 0.58
- MetaSVM 0.06
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant hypocalcemia 1; Familial hypoca)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Population evidence available
- Structural context available