G22S (p.Gly22Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
G22S (p.Gly22Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive Alport syndrome; Benign familial hematuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs779795137
- ClinGen CA2145858
- ClinVar RCV001771518
- ClinVar RCV006256915
- Uncertain significance
- Autosomal recessive Alport syndrome; Benign familial hematuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- CADD 2.33
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Autosomal recessive Alport syndrome; Benign familial hematuria;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)