G31E (p.Gly31Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G31E (p.Gly31Glu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- ExAC rs778455518
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.77
- CADD 21.70
- PolyPhen-2 0.16
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available