L19I (p.Leu19Ile) variant of COL4A5 (Collagen alpha-5(IV) chain)
L19I (p.Leu19Ile) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD X-108440180-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.26
- MetaLR 0.48
- MetaSVM -0.47
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available