N57K (p.Asn57Lys) variant of ADH1B (P00325)
N57K (p.Asn57Lys) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
N57K (p.Asn57Lys) variant details
- p.Asn57Lys
- rs1041969
- UniProt VAR 019322
- TOPMed rs1041969
- gnomAD rs1041969
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.22
- MetaLR 0.00
- MetaSVM -0.94
- SIFT 0.82
- MutPred 0.30
- Structural context available
- Cited in: Nucleotide sequence of the ADH2(3) gene encoding the human alcohol dehydrogenase beta 3 subunit. (PMID 2679216)
- Cited in: Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification. (PMID 3397059)