K7K (p.Lys7Lys) variant of ETFDH (Q16134)
K7K (p.Lys7Lys) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K7K (p.Lys7Lys) variant details
- p.Lys7Lys
- rs1232501551
- gnomAD 4-158672477-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 13.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available