A645D (p.Ala645Asp) variant of CASR (P41180)
A645D (p.Ala645Asp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
A645D (p.Ala645Asp) variant details
- p.Ala645Asp
- rs193922430
- ClinGen CA213575
- ClinVar RCV000029437
- Ensembl rs193922430
- Likely pathogenic
- Familial hypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Familial hypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available