C38F (p.Cys38Phe) variant of COL4A5 (Collagen alpha-5(IV) chain)
C38F (p.Cys38Phe) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C38F (p.Cys38Phe) variant details
- p.Cys38Phe
- rs1444428109
- ClinGen CA413908751
- ClinVar RCV002953857
- ClinVar RCV005050669
- Uncertain significance
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.78
- MetaLR 0.90
- MetaSVM 1.00
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)