A375T (p.Ala375Thr) variant of KCNQ3 (O43525)
A375T (p.Ala375Thr) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
A375T (p.Ala375Thr) variant details
- p.Ala375Thr
- rs2130121106
- ClinGen CA372289850
- ClinVar RCV001378943
- Ensembl rs2130121106
- Likely pathogenic
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Benign neonatal seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available