D16N (p.Asp16Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
D16N (p.Asp16Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs1674859557
- ClinGen CA341159640
- ClinVar RCV002609578
- TOPMed rs1674859557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available