G1000V (p.Gly1000Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1000V (p.Gly1000Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G1000V (p.Gly1000Val) variant details
- p.Gly1000Val
- rs281874709
- ClinGen CA258787
- ClinVar RCV000021461
- Ensembl rs281874709
- Conflicting interpretations
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)