G148V (p.Gly148Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G148V (p.Gly148Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; Autosomal dominant Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G148V (p.Gly148Val) variant details
- p.Gly148Val
- rs775373641
- ClinGen CA2146140
- ClinVar RCV000666006
- ClinVar RCV000786994
- Pathogenic/Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)