E121D (p.Glu121Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
E121D (p.Glu121Asp) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E121D (p.Glu121Asp) variant details
- p.Glu121Asp
- TOPMed rs1238295283
- gnomAD rs1238295283
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.27
- ESM-1b 0.53
- AlphaMissense 0.15
- CADD 4.46
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available