L90P (p.Leu90Pro) variant of GJA1 (Gap junction alpha-1 protein)
L90P (p.Leu90Pro) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L90P (p.Leu90Pro) variant details
- p.Leu90Pro
- TOPMed rs1773901652
- gnomAD rs1773901652
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.04
- CADD 28.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available