K49N (p.Lys49Asn) variant of ACAD9 (Q9H845)
K49N (p.Lys49Asn) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- gnomAD 3-128879838-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- MetaLR 0.65
- MetaSVM -0.30
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available