R99I (p.Arg99Ile) variant of KCNQ3 (O43525)
R99I (p.Arg99Ile) 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 0.75 / 1. The record also includes structural context.
R99I (p.Arg99Ile) variant details
- p.Arg99Ile
- rs1822516917
- ClinGen CA372292507
- NCI-TCGA Cosmic COSV6646
- cosmic curated COSV66467
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available