F80V (p.Phe80Val) variant of KCNJ10 (P78508)
F80V (p.Phe80Val) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
F80V (p.Phe80Val) variant details
- p.Phe80Val
- rs377638115
- ClinGen CA1193271
- ClinVar RCV001987506
- ClinVar RCV002275297
- Uncertain significance
- not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available