N53I (p.Asn53Ile) variant of SCN2A (Q99250)
N53I (p.Asn53Ile) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
N53I (p.Asn53Ile) variant details
- p.Asn53Ile
- gnomAD 2-165295981-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available