K26T (p.Lys26Thr) variant of ACADM (P11310)
K26T (p.Lys26Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K26T (p.Lys26Thr) variant details
- p.Lys26Thr
- rs2100347143
- ClinGen CA340807233
- ClinVar RCV001934853
- Ensembl rs2100347143
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.39
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)