E32G (p.Glu32Gly) variant of COL11A1 (Collagen alpha-1(XI) chain)
E32G (p.Glu32Gly) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- ExAC rs778603790
- gnomAD rs778603790
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available