K23N (p.Lys23Asn) variant of ETFDH (Q16134)
K23N (p.Lys23Asn) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- gnomAD 4-158680501-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.21
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available