R5H (p.Arg5His) variant of FBN1 (Fibrillin-1)
R5H (p.Arg5His) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs1305871580
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10035
- TOPMed rs1305871580
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.05
- MetaLR 0.30
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)