S60R (p.Ser60Arg) variant of ACAD9 (Q9H845)
S60R (p.Ser60Arg) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- gnomAD 3-128884680-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.30
- MetaLR 0.80
- MetaSVM 0.24
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available