H18Q (p.His18Gln) variant of KCNA1 (Q09470)
H18Q (p.His18Gln) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- gnomAD rs1338230248
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.38
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available