P83R (p.Pro83Arg) variant of KCNA2 (P16389)
P83R (p.Pro83Arg) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P83R (p.Pro83Arg) variant details
- p.Pro83Arg
- gnomAD 1-110604535-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.54
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available