A30S (p.Ala30Ser) variant of ETFDH (Q16134)
A30S (p.Ala30Ser) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 4-158680520-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.23
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available