G310V (p.Gly310Val) variant of KCNQ3 (O43525)
G310V (p.Gly310Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G310V (p.Gly310Val) variant details
- p.Gly310Val
- rs118192250
- ClinGen CA340677
- ClinVar RCV000007816
- UniProt VAR 001546
- Pathogenic
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 2)
- EBI: Pathogenic (in BFNS2)
- UniProt: Pathogenic (in BFNS2)
- Structural context available
- Cited in: KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and… (PMID 14534157)
- Cited in: Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. (PMID 1859177)