H4Y (p.His4Tyr) variant of KCNQ5 (Q9NR82)
H4Y (p.His4Tyr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- gnomAD 6-72622199-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available