R43Q (p.Arg43Gln) variant of KCNA2 (P16389)
R43Q (p.Arg43Gln) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- cosmic curated COSV60370
- gnomAD rs772058917
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 27.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available