P67T (p.Pro67Thr) variant of SCN9A (Q15858)
P67T (p.Pro67Thr) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P67T (p.Pro67Thr) variant details
- p.Pro67Thr
- gnomAD rs1354932910
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available