L84V (p.Leu84Val) variant of KCNJ3 (P48549)
L84V (p.Leu84Val) in KCNJ3 (P48549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L84V (p.Leu84Val) variant details
- p.Leu84Val
- cosmic curated COSV54537
- TOPMed rs1029458808
- gnomAD rs1029458808
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.77
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available