P23S (p.Pro23Ser) variant of KCNJ10 (P78508)
P23S (p.Pro23Ser) 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 0.52 / 1. The record also includes population frequency data.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs1648632903
- ClinGen CA343230611
- ClinVar RCV003044952
- gnomAD rs1648632903
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.89
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available