E37Q (p.Glu37Gln) variant of KCNA1 (Q09470)
E37Q (p.Glu37Gln) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- gnomAD 12-4911487-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.43
- MetaLR 0.37
- MetaSVM -0.44
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available