S18F (p.Ser18Phe) variant of CASR (P41180)
S18F (p.Ser18Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- rs749748004
- ClinGen CA2569409
- ClinVar RCV002039460
- ClinVar RCV002482429
- Uncertain significance
- not specified; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalc
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 22.20
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Familial hypocalciuric hypercalcemia; Autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available