S171R (p.Ser171Arg) variant of CASR (P41180)
S171R (p.Ser171Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperparathyroidism or Hypocalciuric hypercalcaemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S171R (p.Ser171Arg) variant details
- p.Ser171Arg
- rs764149433
- ClinGen CA16611107
- ClinVar RCV000498184
- ClinVar RCV002230401
- Likely pathogenic
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hyperparathyroidism or Hypocalciuric hypercalcaemia)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available