R14I (p.Arg14Ile) variant of COL4A4 (Collagen alpha-4(IV) chain)
R14I (p.Arg14Ile) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R14I (p.Arg14Ile) variant details
- p.Arg14Ile
- rs771093210
- NCI-TCGA Cosmic COSV1003
- ExAC rs771093210
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.11
- MetaLR 0.48
- MetaSVM -0.43
- PolyPhen-2 0.86
- SIFT 0.02
- MutPred 0.62
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available