F52I (p.Phe52Ile) variant of COL4A5 (Collagen alpha-5(IV) chain)
F52I (p.Phe52Ile) 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 X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F52I (p.Phe52Ile) variant details
- p.Phe52Ile
- TOPMed rs2065867776
- Uncertain significance
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.56
- MetaSVM -0.19
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available