L24Q (p.Leu24Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L24Q (p.Leu24Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L24Q (p.Leu24Gln) variant details
- p.Leu24Gln
- rs2491094003
- ClinGen CA375443951
- ClinVar RCV002933103
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.41
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)