G42S (p.Gly42Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G42S (p.Gly42Ser) 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; not specified; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs371351149
- ClinGen CA334174303
- ClinVar RCV002186039
- ClinVar RCV004526192
- Conflicting interpretations
- not provided; not specified; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.48
- MetaLR 0.84
- MetaSVM 0.56
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; X-linked Alport syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)