G5A (p.Gly5Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
G5A (p.Gly5Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD X-108440139-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.56
- CADD 19.50
- PolyPhen-2 0.28
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available