N115K (p.Asn115Lys) variant of ADH1B (P00325)
N115K (p.Asn115Lys) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
N115K (p.Asn115Lys) variant details
- p.Asn115Lys
- rs757632781
- ClinGen CA101651903
- ClinVar RCV004352797
- ExAC rs757632781
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0379
- REVEL 0.01
- CADD 1.25
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available