P35R (p.Pro35Arg) variant of ETFA (P13804)
P35R (p.Pro35Arg) in ETFA (P13804) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- TOPMed rs1348530722
- gnomAD rs1348530722
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 27.20
- PolyPhen-2 0.60
- SIFT 0.02
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available