I66L (p.Ile66Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
I66L (p.Ile66Leu) 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 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I66L (p.Ile66Leu) variant details
- p.Ile66Leu
- rs2153501357
- ClinGen CA349847169
- ClinVar RCV001525997
- ClinVar RCV001873685
- Uncertain significance
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.79
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)