A3V (p.Ala3Val) variant of ACADM (P11310)
A3V (p.Ala3Val) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs758001595
- TOPMed rs758001595
- gnomAD rs758001595
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available