M50V (p.Met50Val) variant of CACNA1E (Q15878)
M50V (p.Met50Val) in CACNA1E (Q15878) 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 0.77 / 1. The record also includes population frequency data and structural context.
M50V (p.Met50Val) variant details
- p.Met50Val
- rs1663536108
- ClinGen CA343844445
- ClinVar RCV003315041
- TOPMed rs1663536108
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available