W20R (p.Trp20Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
W20R (p.Trp20Arg) in COL4A5 (Collagen alpha-5(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 0.33 / 1. The record also includes population frequency data and structural context.
W20R (p.Trp20Arg) variant details
- p.Trp20Arg
- rs753738687
- ExAC rs753738687
- TOPMed rs753738687
- gnomAD rs753738687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.35
- MetaLR 0.43
- MetaSVM -0.60
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available