Q14K (p.Gln14Lys) variant of ETFDH (Q16134)
Q14K (p.Gln14Lys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q14K (p.Gln14Lys) variant details
- p.Gln14Lys
- gnomAD 4-158680472-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.40
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available