T47P (p.Thr47Pro) variant of ETFDH (Q16134)
T47P (p.Thr47Pro) in ETFDH (Q16134) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T47P (p.Thr47Pro) variant details
- p.Thr47Pro
- TOPMed rs924962456
- gnomAD rs924962456
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.74
- CADD 24.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available