Y13I (p.Tyr13Ile) variant of ETFDH (Q16134)
Y13I (p.Tyr13Ile) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y13I (p.Tyr13Ile) variant details
- p.Tyr13Ile
- rs2150304327
- gnomAD 4-158680467-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available