R65Q (p.Arg65Gln) variant of KCNA2 (P16389)
R65Q (p.Arg65Gln) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs1649516324
- ClinGen CA341606461
- NCI-TCGA Cosmic COSV1044
- NCI-TCGA Cosmic COSV6036
- Uncertain significance
- Developmental and epileptic encephalopathy, 32; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.70
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available