S22L (p.Ser22Leu) variant of ACADM (P11310)
S22L (p.Ser22Leu) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- gnomAD 1-75728435-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.37
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available