Q38R (p.Gln38Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q38R (p.Gln38Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- ExAC rs774982255
- TOPMed rs774982255
- gnomAD rs774982255
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.27
- CADD 12.30
- PolyPhen-2 0.36
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- Structural context available