G11V (p.Gly11Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G11V (p.Gly11Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- rs2523832885
- ClinGen CA915940747
- ClinVar RCV002928907
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.51
- MetaLR 0.40
- MetaSVM -0.27
- CADD 21.30
- PolyPhen-2 0.36
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available