N61K (p.Asn61Lys) variant of ETFDH (Q16134)
N61K (p.Asn61Lys) 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.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- gnomAD 4-158682202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.33
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available