S21N (p.Ser21Asn) variant of ACADVL (P49748)
S21N (p.Ser21Asn) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Very long chai. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- rs753922855
- ClinGen CA8337521
- ClinVar RCV001802604
- ClinVar RCV004813188
- Likely pathogenic
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Very long chai
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.17
- ClinVar: Likely pathogenic (Pancreatic hypoplasia-diabetes-congenital heart disease syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)