G21E (p.Gly21Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G21E (p.Gly21Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- NCI-TCGA Cosmic COSV5786
- cosmic curated COSV57865
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.47
- MetaLR 0.52
- MetaSVM -0.24
- CADD 22.80
- PolyPhen-2 0.70
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available