P67A (p.Pro67Ala) variant of SCN9A (Nav1.7)
P67A (p.Pro67Ala) in SCN9A (Nav1.7) 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.
P67A (p.Pro67Ala) variant details
- p.Pro67Ala
- gnomAD rs1354932910
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- MetaLR 0.97
- MetaSVM 1.09
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available