G295S (p.Gly295Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G295S (p.Gly295Ser) 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 0.93 / 1. The record also includes published literature and structural context.
G295S (p.Gly295Ser) variant details
- p.Gly295Ser
- rs2147776763
- ClinGen CA413926474
- ClinVar RCV001837601
- Ensembl rs2147776763
- Uncertain significance
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.72
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- EBI: Variant of uncertain significance (in ATS1)
- UniProt: Uncertain significance (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)