C29S (p.Cys29Ser) variant of ETFDH (Q16134)
C29S (p.Cys29Ser) 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.
C29S (p.Cys29Ser) variant details
- p.Cys29Ser
- gnomAD 4-158680518-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.30
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available