Q88L (p.Gln88Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
Q88L (p.Gln88Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.48 / 1. The record also includes population frequency data and structural context.
Q88L (p.Gln88Leu) variant details
- p.Gln88Leu
- rs1302541426
- ClinGen CA341168455
- ClinVar RCV003860568
- gnomAD rs1302541426
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- ESM-1b 0.90
- AlphaMissense 0.20
- CADD 24.70
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available