K53R (p.Lys53Arg) variant of ETFDH (Q16134)
K53R (p.Lys53Arg) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- rs1275308540
- gnomAD 4-158680588-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available