S70L (p.Ser70Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
S70L (p.Ser70Leu) 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; COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S70L (p.Ser70Leu) variant details
- p.Ser70Leu
- rs990402514
- ClinGen CA27756310
- ClinVar RCV001989972
- Ensembl rs990402514
- Uncertain significance
- not provided; COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.36
- ESM-1b 0.63
- AlphaMissense 0.10
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; COL11A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available