E137K (p.Glu137Lys) variant of CACNA1A (O00555)
E137K (p.Glu137Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- rs1057518116
- ClinGen CA16043080
- cosmic curated COSV64207
- ClinVar RCV000413159
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available