S14N (p.Ser14Asn) variant of ACADM (P11310)
S14N (p.Ser14Asn) in ACADM (P11310) 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.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- gnomAD 1-75728411-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.32
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available