D125N (p.Asp125Asn) variant of KCNB1 (Q14721)
D125N (p.Asp125Asn) 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 0.67 / 1. The record also includes population frequency data.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- NCI-TCGA Cosmic COSV6557
- cosmic curated COSV65570
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.59
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)