G908A (p.Gly908Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
G908A (p.Gly908Ala) 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 X-linked Alport syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G908A (p.Gly908Ala) variant details
- p.Gly908Ala
- rs878853089
- ClinGen CA413852082
- ClinVar RCV003991215
- ClinVar RCV004371920
- Conflicting interpretations
- X-linked Alport syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)