L17Q (p.Leu17Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
L17Q (p.Leu17Gln) 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.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD rs1299791698
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.59
- MetaLR 0.48
- MetaSVM -0.11
- CADD 22.90
- PolyPhen-2 0.56
- SIFT 0.06
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available