E49G (p.Glu49Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
E49G (p.Glu49Gly) 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 X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- rs1569486475
- ClinGen CA413913816
- ClinVar RCV000722967
- ClinVar RCV004821285
- Uncertain significance
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.24
- MetaLR 0.82
- MetaSVM 0.69
- PolyPhen-2 0.98
- SIFT 0.09
- EVE 0.62
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)