S14C (p.Ser14Cys) variant of ACADM (P11310)
S14C (p.Ser14Cys) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- TOPMed rs1237259422
- gnomAD rs1237259422
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.61
- CADD 26.50
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available