K108E (p.Lys108Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
K108E (p.Lys108Glu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K108E (p.Lys108Glu) variant details
- p.Lys108Glu
- rs752692524
- ClinGen CA975482
- ClinVar RCV001894601
- ExAC rs752692524
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.05
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available