K22N (p.Lys22Asn) variant of ETFDH (Q16134)
K22N (p.Lys22Asn) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- gnomAD 4-158680498-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available