R50I (p.Arg50Ile) variant of COL4A4 (Collagen alpha-4(IV) chain)
R50I (p.Arg50Ile) in COL4A4 (Collagen alpha-4(IV) chain) 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 structural context.
R50I (p.Arg50Ile) variant details
- p.Arg50Ile
- NCI-TCGA Cosmic COSV6163
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.71
- MetaSVM 0.41
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available