G123S (p.Gly123Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
G123S (p.Gly123Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G123S (p.Gly123Ser) variant details
- p.Gly123Ser
- rs1309002302
- ClinGen CA341167890
- NCI-TCGA Cosmic COSV6217
- cosmic curated COSV62177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 25.60
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available