P7A (p.Pro7Ala) variant of SCN9A (Q15858)
P7A (p.Pro7Ala) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- ExAC rs749215366
- gnomAD rs749215366
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- MetaLR 0.90
- MetaSVM 0.98
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available