A41V (p.Ala41Val) variant of KCNB1 (Q14721)
A41V (p.Ala41Val) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs1980525336
- ClinGen CA408951743
- ClinVar RCV001060788
- Ensembl rs1980525336
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)