G5D (p.Gly5Asp) variant of BIN1 (O00499)
G5D (p.Gly5Asp) in BIN1 (O00499) 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 0.45 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.19
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available