Q34K (p.Gln34Lys) variant of COL4A4 (Collagen alpha-4(IV) chain)
Q34K (p.Gln34Lys) 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 Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- ExAC rs753355705
- TOPMed rs753355705
- gnomAD rs753355705
- Uncertain significance
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available