P7L (p.Pro7Leu) variant of SCN9A (Q15858)
P7L (p.Pro7Leu) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neuropathy, hereditary sensory and autonomic, type 2A; Generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs773012423
- ClinGen CA1944906
- ClinVar RCV001049049
- ClinVar RCV002261262
- Uncertain significance
- not provided; Neuropathy, hereditary sensory and autonomic, type 2A; Generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.43
- MetaLR 0.90
- MetaSVM 1.04
- CADD 27.70
- PolyPhen-2 0.33
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Neuropathy, hereditary sensory and autonomic, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)