K7S (p.Lys7Ser) variant of ETFDH (Q16134)
K7S (p.Lys7Ser) in ETFDH (Q16134) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K7S (p.Lys7Ser) variant details
- p.Lys7Ser
- rs1486672284
- gnomAD 4-158672474-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 31.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available