L1378Q (p.Leu1378Gln) variant of COL2A1 (Collagen alpha-1(II) chain)
L1378Q (p.Leu1378Gln) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloepiphyseal dysplasia congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L1378Q (p.Leu1378Gln) variant details
- p.Leu1378Gln
- rs2136505985
- ClinGen CA384533786
- ClinVar RCV001787271
- Ensembl rs2136505985
- Likely pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.97
- MetaLR 0.83
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)