H45R (p.His45Arg) variant of ETFDH (Q16134)
H45R (p.His45Arg) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- gnomAD 4-158680566-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.86
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available