K25Q (p.Lys25Gln) variant of COL5A2 (Collagen alpha-2(V) chain)
K25Q (p.Lys25Gln) 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 0.42 / 1. The record also includes published literature and structural context.
K25Q (p.Lys25Gln) variant details
- p.Lys25Gln
- rs1688743702
- ClinGen CA349986217
- ClinVar RCV002241641
- Ensembl rs1688743702
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.73
- PolyPhen-2 0.18
- SIFT 0.46
- MutPred 0.33
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)