A27T (p.Ala27Thr) variant of KCNA2 (P16389)
A27T (p.Ala27Thr) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 32; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs750618978
- ClinGen CA1000755
- ClinVar RCV001405974
- ClinVar RCV005437136
- Likely benign
- Developmental and epileptic encephalopathy, 32; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.21
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 32; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0022)
- Structural context available