R12L (p.Arg12Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
R12L (p.Arg12Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- ExAC rs767496065
- TOPMed rs767496065
- gnomAD rs767496065
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.17
- MetaSVM -0.82
- CADD 24.60
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available