D19G (p.Asp19Gly) variant of FERMT1 (Fermitin family homolog 1)
D19G (p.Asp19Gly) in FERMT1 (Fermitin family homolog 1) 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 0.37 / 1. The record also includes population frequency data and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- rs1372798358
- NCI-TCGA Cosmic COSV9945
- gnomAD rs1372798358
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.29
- CADD 19.60
- PolyPhen-2 0.19
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available