F84L (p.Phe84Leu) variant of GJA1 (Gap junction alpha-1 protein)
F84L (p.Phe84Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- rs1773901515
- ClinGen CA365558412
- ClinVar RCV002259460
- ClinVar RCV003095862
- Uncertain significance
- not provided; Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.78
- MetaLR 0.91
- MetaSVM 0.84
- CADD 22.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available