N26K (p.Asn26Lys) variant of ACAD9 (Q9H845)
N26K (p.Asn26Lys) in ACAD9 (Q9H845) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- TOPMed rs1264109871
- gnomAD rs1264109871
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.21
- CADD 0.45
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available