K106R (p.Lys106Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
K106R (p.Lys106Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K106R (p.Lys106Arg) variant details
- p.Lys106Arg
- rs1362665820
- ClinGen CA350863199
- ClinVar RCV002795432
- ClinVar RCV005019400
- Uncertain significance
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.22
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)