R36K (p.Arg36Lys) variant of SCN2A (Q99250)
R36K (p.Arg36Lys) in SCN2A (Q99250) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51831
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.47
- MetaSVM -0.29
- CADD 18.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available