A12E (p.Ala12Glu) variant of COL5A1 (Collagen alpha-1(V) chain)
A12E (p.Ala12Glu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- rs995895784
- ClinGen CA375443830
- ClinVar RCV002233634
- TOPMed rs995895784
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.16
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)