L17R (p.Leu17Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
L17R (p.Leu17Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- gnomAD rs1299791698
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.60
- MetaLR 0.48
- MetaSVM -0.14
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.05
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available