G69R (p.Gly69Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G69R (p.Gly69Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- ExAC rs776454345
- gnomAD rs776454345
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available