P50S (p.Pro50Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
P50S (p.Pro50Ser) 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 not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs879344129
- ClinGen CA162907094
- ClinVar RCV000520256
- ClinVar RCV005222997
- Uncertain significance
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.35
- CADD 22.30
- PolyPhen-2 0.35
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)