Y30C (p.Tyr30Cys) variant of COL4A5 (Collagen alpha-5(IV) chain)
Y30C (p.Tyr30Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs150305490
- ClinGen CA10488361
- ClinVar RCV000591165
- ClinVar RCV001449946
- Conflicting interpretations
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.45
- MetaLR 0.42
- MetaSVM -0.36
- CADD 20.50
- PolyPhen-2 0.39
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.014)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)