G414R (p.Gly414Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G414R (p.Gly414Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. 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.
G414R (p.Gly414Arg) variant details
- p.Gly414Arg
- rs373150214
- ClinGen CA66554561
- ClinVar RCV004555412
- ClinVar RCV005015183
- Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.73
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)