A302V (p.Ala302Val) variant of COL2A1 (Collagen alpha-1(II) chain)
A302V (p.Ala302Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A302V (p.Ala302Val) variant details
- p.Ala302Val
- rs1555168505
- ClinGen CA384521889
- NCI-TCGA Cosmic COSV6152
- cosmic curated COSV61527
- Pathogenic/Likely pathogenic
- Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.06
- PolyPhen-2 0.28
- SIFT 0.33
- EVE 0.09
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis type II; Avascular necrosis of femoral head, pri)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Spondylometaphyseal Dysplasia, Corner Fracture Type. (PMID 32200603)