P70S (p.Pro70Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
P70S (p.Pro70Ser) 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 Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs771749616
- ClinGen CA4346551
- ClinVar RCV003793378
- ExAC rs771749616
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.53
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)