R62K (p.Arg62Lys) variant of CASR (P41180)
R62K (p.Arg62Lys) 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 0.83 / 1. The record also includes structural context.
R62K (p.Arg62Lys) variant details
- p.Arg62Lys
- rs121909265
- ClinGen CA354362315
- ClinVar RCV003801608
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.85
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.58
- 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