E10Q (p.Glu10Gln) variant of KCNJ11 (Q14654)
E10Q (p.Glu10Gln) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- rs587783667
- ClinGen CA379777702
- ClinVar RCV000986133
- gnomAD rs587783667
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.24
- MetaLR 0.71
- MetaSVM 0.55
- SIFT 0.00
- MutPred 0.36
- ClinVar: Likely benign (not provided)
- EBI: Benign (in dbSNP:rs587783667)
- UniProt: Benign (in dbSNP:rs587783667)
- Structural context available