L115R (p.Leu115Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
L115R (p.Leu115Arg) 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 Hearing loss, autosomal dominant 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
L115R (p.Leu115Arg) variant details
- p.Leu115Arg
- rs2526189553
- ClinGen CA341167938
- ClinVar RCV002574758
- Uncertain significance
- Hearing loss, autosomal dominant 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Uncertain significance (Hearing loss, autosomal dominant 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available