M1T (p.Met1Thr) variant of KCNQ3 (O43525)
M1T (p.Met1Thr) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2130875490
- ClinGen CA372293094
- ClinVar RCV001368791
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- MetaLR 0.86
- MetaSVM 0.52
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available