K19N (p.Lys19Asn) variant of ADH1B (P00325)
K19N (p.Lys19Asn) in ADH1B (P00325) 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 0.04 / 1. The record also includes population frequency data and structural context.
K19N (p.Lys19Asn) variant details
- p.Lys19Asn
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59297
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0421
- REVEL 0.02
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available