N3K (p.Asn3Lys) variant of ANK2 (Ankyrin-2)
N3K (p.Asn3Lys) in ANK2 (Ankyrin-2) 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 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- cosmic curated COSV10805
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 16.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.155