K42N (p.Lys42Asn) variant of SCN2A (Q99250)
K42N (p.Lys42Asn) 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 0.26 / 1. The record also includes structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- cosmic curated COSV51836
- NCI-TCGA Cosmic COSV5183
- NCI-TCGA Cosmic COSV5184
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available