G149V (p.Gly149Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G149V (p.Gly149Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Benign familial hematuria; not provided; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G149V (p.Gly149Val) variant details
- p.Gly149Val
- rs374815903
- ClinGen CA2145664
- ClinVar RCV000408863
- ClinVar RCV001251466
- Pathogenic/Likely pathogenic
- Benign familial hematuria; not provided; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.97
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Benign familial hematuria; not provided; Autosomal recessive Alp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)