G161V (p.Gly161Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G161V (p.Gly161Val) 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 not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. 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.
G161V (p.Gly161Val) variant details
- p.Gly161Val
- rs745672795
- ClinGen CA2145656
- ClinVar RCV000517766
- ClinVar RCV004787825
- Likely pathogenic
- not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.96
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive Alport syndrome; Hematuria, be)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)