G11R (p.Gly11Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G11R (p.Gly11Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- gnomAD X-108440156-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.48
- MetaLR 0.52
- MetaSVM -0.34
- CADD 22.90
- PolyPhen-2 0.86
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Literature evidence available