P31S (p.Pro31Ser) variant of ACADVL (P49748)
P31S (p.Pro31Ser) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1487946294
- ClinGen CA397722074
- cosmic curated COSV10731
- ClinVar RCV002030868
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.35
- CADD 16.10
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)