L55W (p.Leu55Trp) variant of COL4A5 (Collagen alpha-5(IV) chain)
L55W (p.Leu55Trp) 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 0.73 / 1. The record also includes population frequency data and structural context.
L55W (p.Leu55Trp) variant details
- p.Leu55Trp
- rs779142914
- ClinGen CA10488376
- ClinVar RCV001952734
- ExAC rs779142914
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.77
- MetaLR 0.87
- MetaSVM 0.88
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available