L28R (p.Leu28Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
L28R (p.Leu28Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of COL5A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- rs2491094145
- ClinGen CA375443996
- ClinVar RCV003977088
- Uncertain significance
- COL5A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.68
- CADD 28.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (COL5A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available