W54C (p.Trp54Cys) variant of COL5A2 (Collagen alpha-2(V) chain)
W54C (p.Trp54Cys) 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; COL5A2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W54C (p.Trp54Cys) variant details
- p.Trp54Cys
- rs863223500
- ClinGen CA320053
- ClinVar RCV000195689
- ClinVar RCV003407698
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)