Q38E (p.Gln38Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q38E (p.Gln38Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q38E (p.Gln38Glu) variant details
- p.Gln38Glu
- rs201607115
- ClinGen CA2145906
- ClinVar RCV000380561
- ClinVar RCV000907824
- Conflicting interpretations
- Inborn genetic diseases; not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.21
- CADD 15.10
- PolyPhen-2 0.44
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Alport syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)