A97V (p.Ala97Val) variant of KCNQ2 (O43526)
A97V (p.Ala97Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A97V (p.Ala97Val) variant details
- p.Ala97Val
- rs1131691879
- ClinGen CA409634980
- ClinVar RCV000493375
- ClinVar RCV005434970
- Uncertain significance
- Early-infantile DEE; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.79
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.14
- ClinVar: Uncertain significance (Early-infantile DEE; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available