H14P (p.His14Pro) variant of SCN9A (Q15858)
H14P (p.His14Pro) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H14P (p.His14Pro) variant details
- p.His14Pro
- rs201000497
- ClinGen CA59810463
- ClinVar RCV001370238
- TOPMed rs201000497
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- MetaLR 0.37
- MetaSVM -0.35
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)