I74M (p.Ile74Met) variant of COL5A2 (Collagen alpha-2(V) chain)
I74M (p.Ile74Met) in COL5A2 (Collagen alpha-2(V) chain) 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 0.42 / 1. The record also includes structural context.
I74M (p.Ile74Met) variant details
- p.Ile74Met
- rs1248370726
- NCI-TCGA Cosmic COSV6641
- TOPMed rs1248370726
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.15
- MetaLR 0.36
- MetaSVM -0.54
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available