S122* (p.Ser122Ter) variant of KCNQ2 (O43526)
S122* (p.Ser122Ter) in KCNQ2 (O43526) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S122* (p.Ser122Ter) variant details
- p.Ser122Ter
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10060
- NCI-TCGA Cosmic COSV6043
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available