N48K (p.Asn48Lys) variant of SCN2A (Q99250)
N48K (p.Asn48Lys) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- gnomAD 2-165295967-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.82
- MetaSVM 0.74
- CADD 22.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available