D114N (p.Asp114Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
D114N (p.Asp114Asn) in COL2A1 (Collagen alpha-1(II) 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 0.55 / 1. The record also includes population frequency data and structural context.
D114N (p.Asp114Asn) variant details
- p.Asp114Asn
- rs1940053470
- ClinGen CA384525294
- cosmic curated COSV10742
- ClinVar RCV002006663
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available