V22M (p.Val22Met) variant of KCNQ2 (O43526)
V22M (p.Val22Met) 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; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- rs2082239153
- ClinGen CA409635979
- ClinVar RCV001810029
- ClinVar RCV006466457
- Uncertain significance
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.64
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)