G557R (p.Gly557Arg) variant of CASR (P41180)
G557R (p.Gly557Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G557R (p.Gly557Arg) variant details
- p.Gly557Arg
- rs2107648307
- ClinGen CA354156235
- NCI-TCGA Cosmic COSV9994
- cosmic curated COSV99948
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.79
- MetaLR 0.67
- MetaSVM 0.24
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance (in HHC1)
- UniProt: Uncertain significance (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available