E29G (p.Glu29Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
E29G (p.Glu29Gly) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- gnomAD 2-188984766-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.63
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available