G1155S (p.Gly1155Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1155S (p.Gly1155Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1155S (p.Gly1155Ser) variant details
- p.Gly1155Ser
- rs774583962
- ClinGen CA2147255
- ClinVar RCV001980273
- ClinVar RCV002479685
- Likely pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.99
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)