L18F (p.Leu18Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
L18F (p.Leu18Phe) in COL5A2 (Collagen alpha-2(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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs2105831569
- ClinGen CA349986256
- ClinVar RCV001993844
- Ensembl rs2105831569
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.43
- PolyPhen-2 0.91
- SIFT 0.06
- MutPred 0.64
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)