I65T (p.Ile65Thr) variant of SCN2A (Q99250)
I65T (p.Ile65Thr) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- gnomAD rs1188923931
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available