I76V (p.Ile76Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
I76V (p.Ile76Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- rs546883881
- ClinGen CA66577379
- ClinVar RCV003574024
- 1000Genomes rs546883881
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.28
- CADD 20.80
- PolyPhen-2 0.68
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available