H33Q (p.His33Gln) variant of KCNA1 (Q09470)
H33Q (p.His33Gln) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H33Q (p.His33Gln) variant details
- p.His33Gln
- ExAC rs773288048
- gnomAD rs773288048
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.34
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available