D42V (p.Asp42Val) variant of SCN9A (Q15858)
D42V (p.Asp42Val) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D42V (p.Asp42Val) variant details
- p.Asp42Val
- rs373650798
- ClinGen CA1944885
- ClinVar RCV002929050
- ESP rs373650798
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.86
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)