P50T (p.Pro50Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
P50T (p.Pro50Thr) in COL1A2 (Collagen alpha-2(I) 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; Osteogenesis imperfecta type I; Cardiov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- rs879344129
- ClinGen CA368219131
- ClinVar RCV002389658
- ClinVar RCV005227725
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Cardiov
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.07
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)