M47I (p.Met47Ile) variant of CACNA1A (O00555)
M47I (p.Met47Ile) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
M47I (p.Met47Ile) variant details
- p.Met47Ile
- TOPMed rs1225124202
- gnomAD rs1225124202
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- MetaLR 0.74
- MetaSVM 0.16
- CADD 22.50
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available