P35T (p.Pro35Thr) variant of SCN9A (Q15858)
P35T (p.Pro35Thr) 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 0.58 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- ExAC rs762892329
- gnomAD rs762892329
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.82
- MetaSVM 0.15
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available