G557W (p.Gly557Trp) variant of CASR (P41180)
G557W (p.Gly557Trp) 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 0.57 / 1. The record also includes structural context.
G557W (p.Gly557Trp) variant details
- p.Gly557Trp
- rs2107648307
- ClinGen CA354156237
- ClinVar RCV002819735
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.79
- MetaLR 0.67
- MetaSVM 0.24
- PolyPhen-2 0.06
- SIFT 0.03
- EVE 0.35
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance (in HHC1)
- UniProt: Uncertain significance (in HHC1)
- Structural context available