H4H (p.His4His) variant of KCNQ5 (Q9NR82)
H4H (p.His4His) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H4H (p.His4His) variant details
- p.His4His
- gnomAD 6-72622201-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available