A19P (p.Ala19Pro) variant of CASR (P41180)
A19P (p.Ala19Pro) 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 0.65 / 1. The record also includes population frequency data and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- rs2074528751
- ClinGen CA354362035
- ClinVar RCV001318159
- Ensembl rs2074528751
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 22.70
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available