Q56P (p.Gln56Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q56P (p.Gln56Pro) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q56P (p.Gln56Pro) variant details
- p.Gln56Pro
- gnomAD rs1431568393
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- MetaLR 0.33
- MetaSVM -0.79
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available