G224R (p.Gly224Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G224R (p.Gly224Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G224R (p.Gly224Arg) variant details
- p.Gly224Arg
- rs2147770608
- ClinGen CA413923680
- ClinVar RCV001391150
- ClinVar RCV003558828
- Conflicting interpretations
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked 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)