D80N (p.Asp80Asn) variant of KCNB1 (Q14721)
D80N (p.Asp80Asn) in KCNB1 (Q14721) 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 0.49 / 1. The record also includes population frequency data.
D80N (p.Asp80Asn) variant details
- p.Asp80Asn
- NCI-TCGA Cosmic COSV6557
- cosmic curated COSV65570
- Ensembl rs1980519741
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)