P64H (p.Pro64His) variant of CACNA1A (O00555)
P64H (p.Pro64His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
P64H (p.Pro64His) variant details
- p.Pro64His
- rs2145192387
- ClinGen CA404971007
- ClinVar RCV001507937
- Ensembl rs2145192387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available