H93L (p.His93Leu) variant of KCNJ10 (P78508)
H93L (p.His93Leu) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1.
H93L (p.His93Leu) variant details
- p.His93Leu
- rs1377862008
- ClinGen CA343229004
- ClinVar RCV001348491
- gnomAD rs1377862008
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.55
- MetaLR 0.75
- MetaSVM 0.42
- PolyPhen-2 0.99
- SIFT 0.39
- EVE 0.28
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance