P7L (p.Pro7Leu) variant of ETFA (P13804)
P7L (p.Pro7Leu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs557160401
- ClinGen CA312481
- cosmic curated COSV10803
- ClinVar RCV000702647
- Conflicting interpretations
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)