G123D (p.Gly123Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
G123D (p.Gly123Asp) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G123D (p.Gly123Asp) variant details
- p.Gly123Asp
- cosmic curated COSV62182
- gnomAD rs1391480996
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 25.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available