M66I (p.Met66Ile) variant of SCN4A (Nav1.4)
M66I (p.Met66Ile) in SCN4A (Nav1.4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
M66I (p.Met66Ile) variant details
- p.Met66Ile
- gnomAD rs1219877646
- NCI-TCGA Cosmic COSV7112
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.24
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available