Q25P (p.Gln25Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
Q25P (p.Gln25Pro) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q25P (p.Gln25Pro) variant details
- p.Gln25Pro
- ExAC rs748787122
- gnomAD rs748787122
- Uncertain significance
- Ehlers-Danlos syndrome, type 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.62
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.24
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available