E130K (p.Glu130Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
E130K (p.Glu130Lys) 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 0.82 / 1. The record also includes population frequency data and structural context.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- rs2102303130
- ClinGen CA341167844
- ClinVar RCV002251034
- Ensembl rs2102303130
- Uncertain significance
- Hearing loss, autosomal dominant 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Hearing loss, autosomal dominant 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available