P53T (p.Pro53Thr) variant of SCN8A (Q9UQD0)
P53T (p.Pro53Thr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P53T (p.Pro53Thr) variant details
- p.Pro53Thr
- gnomAD 12-51662974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.89
- MetaSVM 0.98
- CADD 23.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available