W79R (p.Trp79Arg) variant of KCNJ10 (P78508)
W79R (p.Trp79Arg) 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 0.96 / 1.
W79R (p.Trp79Arg) variant details
- p.Trp79Arg
- rs2101925083
- ClinGen CA343229356
- ClinVar RCV001891352
- Ensembl rs2101925083
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.93
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance