G30E (p.Gly30Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G30E (p.Gly30Glu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- TOPMed rs1688028911
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -0.96
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available