R69C (p.Arg69Cys) variant of CASR (P41180)
R69C (p.Arg69Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- rs1313627454
- ClinGen CA354362381
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56135
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.92
- MetaLR 0.79
- MetaSVM 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available