P72Q (p.Pro72Gln) variant of COL4A4 (Collagen alpha-4(IV) chain)
P72Q (p.Pro72Gln) in COL4A4 (Collagen alpha-4(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 0.46 / 1. The record also includes population frequency data and structural context.
P72Q (p.Pro72Gln) variant details
- p.Pro72Gln
- TOPMed rs2061759035
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.44
- CADD 22.80
- PolyPhen-2 0.90
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available