R1677Q (p.Arg1677Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
R1677Q (p.Arg1677Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R1677Q (p.Arg1677Gln) variant details
- p.Arg1677Gln
- rs104886308
- ClinGen CA340981
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60366
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.55
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- Structural context available
- Cited in: Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior… (PMID 12796257)
- Cited in: Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. (PMID 9150741)