G42D (p.Gly42Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G42D (p.Gly42Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- 1000Genomes rs767309553
- gnomAD rs767309553
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.71
- MetaLR 0.86
- MetaSVM 0.77
- CADD 22.40
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available