P748Q (p.Pro748Gln) variant of CASR (P41180)
P748Q (p.Pro748Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P748Q (p.Pro748Gln) variant details
- p.Pro748Gln
- rs193922433
- ClinGen CA213582
- ClinVar RCV000029440
- ClinVar RCV000478953
- Likely pathogenic
- not provided; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Familial hypocalciuric hypercalcemia)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Population evidence available
- Structural context available