F97L (p.Phe97Leu) variant of GJA1 (Gap junction alpha-1 protein)
F97L (p.Phe97Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F97L (p.Phe97Leu) variant details
- p.Phe97Leu
- NCI-TCGA Cosmic COSV9924
- TOPMed rs1367466175
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.45
- MetaLR 0.63
- MetaSVM 0.02
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available