F32L (p.Phe32Leu) variant of GJA5 (Gap junction alpha-5 protein)
F32L (p.Phe32Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- NCI-TCGA Cosmic COSV9960
- cosmic curated COSV99605
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)