P64S (p.Pro64Ser) variant of CACNA1A (O00555)
P64S (p.Pro64Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- rs1982996175
- ClinGen CA404971008
- ClinVar RCV001253517
- Ensembl rs1982996175
- Uncertain significance
- Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available