G45R (p.Gly45Arg) variant of KCNA1 (Q09470)
G45R (p.Gly45Arg) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD 12-4911511-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available