I62N (p.Ile62Asn) variant of SCN9A (Q15858)
I62N (p.Ile62Asn) 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 0.72 / 1. The record also includes population frequency data and structural context.
I62N (p.Ile62Asn) variant details
- p.Ile62Asn
- TOPMed rs886681700
- gnomAD rs886681700
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available