I21N (p.Ile21Asn) variant of COL3A1 (Collagen alpha-1(III) chain)
I21N (p.Ile21Asn) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
I21N (p.Ile21Asn) variant details
- p.Ile21Asn
- rs1296337954
- ClinGen CA349845465
- ClinVar RCV003634847
- Uncertain significance
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.30
- MetaLR 0.54
- MetaSVM -0.19
- PolyPhen-2 0.02
- SIFT 0.11
- MutPred 0.65
- ClinVar: Uncertain significance (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)