G230V (p.Gly230Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G230V (p.Gly230Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alport syndrome; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G230V (p.Gly230Val) variant details
- p.Gly230Val
- rs281874763
- ClinGen CA413924015
- ClinVar RCV001195700
- ClinVar RCV001863094
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)