P27H (p.Pro27His) variant of ETFDH (Q16134)
P27H (p.Pro27His) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD 4-158680512-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.29
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available