D51N (p.Asp51Asn) variant of ADH1B (P00325)
D51N (p.Asp51Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs1481323916
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- TOPMed rs1481323916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- CADD 20.30
- PolyPhen-2 0.16
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available