G30R (p.Gly30Arg) variant of F7 (Coagulation factor VII)
G30R (p.Gly30Arg) in F7 (Coagulation factor VII) 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 0.09 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs775296543
- NCI-TCGA Cosmic COSV6064
- ExAC rs775296543
- gnomAD rs775296543
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- CADD 4.60
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available