H17H (p.His17His) variant of ETFDH (Q16134)
H17H (p.His17His) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H17H (p.His17His) variant details
- p.His17His
- gnomAD 4-158680483-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 8.92
- Population evidence available
- Structural context available
- Literature evidence available