P131L (p.Pro131Leu) variant of ETFA (P13804)
P131L (p.Pro131Leu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P131L (p.Pro131Leu) variant details
- p.Pro131Leu
- rs1323414196
- ClinGen CA393515062
- cosmic curated COSV10876
- ClinVar RCV001300516
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)