W1299C (p.Trp1299Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
W1299C (p.Trp1299Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
W1299C (p.Trp1299Cys) variant details
- p.Trp1299Cys
- rs2136508895
- ClinGen CA384536179
- ClinVar RCV003719204
- ClinGen CA384536177
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)