G69S (p.Gly69Ser) variant of SCN9A (Q15858)
G69S (p.Gly69Ser) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A. 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.
G69S (p.Gly69Ser) variant details
- p.Gly69Ser
- rs201243874
- ClinGen CA1944868
- cosmic curated COSV10459
- ClinVar RCV000647798
- Uncertain significance
- Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- MetaLR 0.81
- MetaSVM 0.42
- CADD 11.10
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)