Y25H (p.Tyr25His) variant of ETFDH (Q16134)
Y25H (p.Tyr25His) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Y25H (p.Tyr25His) variant details
- p.Tyr25His
- gnomAD 4-158680505-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available