A22E (p.Ala22Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
A22E (p.Ala22Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- TOPMed rs898269106
- gnomAD rs898269106
- Uncertain significance
- Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.30
- CADD 11.80
- PolyPhen-2 0.24
- SIFT 0.55
- ClinVar: Uncertain significance (Hematuria, benign familial, 2; Alport syndrome 3b, autosomal rec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available