H30Y (p.His30Tyr) variant of KCNA1 (Q09470)
H30Y (p.His30Tyr) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- gnomAD 12-4911466-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- MetaLR 0.70
- MetaSVM 0.11
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available