K31I (p.Lys31Ile) variant of SCN9A (Q15858)
K31I (p.Lys31Ile) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K31I (p.Lys31Ile) variant details
- p.Lys31Ile
- rs920979487
- ClinGen CA59810432
- ClinVar RCV001975679
- ClinVar RCV003250366
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.92
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 0.10
- SIFT 0.01
- 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: 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)