K7R (p.Lys7Arg) variant of ETFDH (Q16134)
K7R (p.Lys7Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- ExAC rs780104191
- gnomAD rs780104191
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available