G1257R (p.Gly1257Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1257R (p.Gly1257Arg) 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 recessive Alport syndrome; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1257R (p.Gly1257Arg) variant details
- p.Gly1257Arg
- rs2106250807
- ClinGen CA350860984
- ClinVar RCV001391122
- Ensembl rs2106250807
- Likely pathogenic
- Autosomal recessive Alport syndrome; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)