Y13* (p.Tyr13Ter) variant of ETFDH (Q16134)
Y13* (p.Tyr13Ter) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y13* (p.Tyr13Ter) variant details
- p.Tyr13Ter
- gnomAD 4-158680471-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available