K55K (p.Lys55Lys) variant of ETFDH (Q16134)
K55K (p.Lys55Lys) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K55K (p.Lys55Lys) variant details
- p.Lys55Lys
- rs1210255898
- gnomAD 4-158680597-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 5.93
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available