G1388S (p.Gly1388Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1388S (p.Gly1388Ser) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G1388S (p.Gly1388Ser) variant details
- p.Gly1388Ser
- TOPMed rs1339067074
- gnomAD rs1339067074
- Conflicting interpretations
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available