Q24* (p.Gln24Ter) variant of CASR (P41180)
Q24* (p.Gln24Ter) in CASR (P41180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs979596307
- ClinGen CA354362068
- ClinVar RCV003088759
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM -0.05
- PolyPhen-2 0.28
- SIFT 0.03
- MutPred 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available