P60S (p.Pro60Ser) variant of SCN9A (Nav1.7)
P60S (p.Pro60Ser) in SCN9A (Nav1.7) 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 0.80 / 1. The record also includes population frequency data and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- 1000Genomes rs540853945
- ExAC rs540853945
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.20
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available