K23R (p.Lys23Arg) variant of ETFDH (Q16134)
K23R (p.Lys23Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- gnomAD 4-158680500-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available