A306V (p.Ala306Val) variant of KCNQ3 (O43525)
A306V (p.Ala306Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
A306V (p.Ala306Val) variant details
- p.Ala306Val
- rs796052678
- ClinGen CA315599
- ClinVar RCV000187971
- ClinVar RCV001852468
- Pathogenic/Likely pathogenic
- not provided; Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (not provided; Benign neonatal seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available