K53K (p.Lys53Lys) variant of ETFDH (Q16134)
K53K (p.Lys53Lys) 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.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- rs1773829069
- gnomAD 4-158680591-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 7.75
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available