I25T (p.Ile25Thr) variant of SCN8A (Q9UQD0)
I25T (p.Ile25Thr) in SCN8A (Q9UQD0) is a missense change. 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.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- ExAC rs779565282
- gnomAD rs779565282
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.92
- MetaSVM 1.06
- CADD 24.10
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- Structural context available