G553V (p.Gly553Val) variant of CASR (P41180)
G553V (p.Gly553Val) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
G553V (p.Gly553Val) variant details
- p.Gly553Val
- rs1576875807
- ClinGen CA354156214
- ClinVar RCV000808599
- ClinVar RCV000991737
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.94
- MetaLR 0.69
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.19
- EVE 0.16
- 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