Y95C (p.Tyr95Cys) variant of CASR (P41180)
Y95C (p.Tyr95Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
Y95C (p.Tyr95Cys) variant details
- p.Tyr95Cys
- rs1060502850
- ClinGen CA16611175
- ClinVar RCV002230397
- Ensembl rs1060502850
- Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available