S38R (p.Ser38Arg) variant of ACADM (P11310)
S38R (p.Ser38Arg) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- rs2100347323
- ClinGen CA340807485
- ClinVar RCV001752416
- Ensembl rs2100347323
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.53
- MetaLR 0.86
- MetaSVM 0.96
- PolyPhen-2 0.94
- SIFT 0.02
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available