P71A (p.Pro71Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
P71A (p.Pro71Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P71A (p.Pro71Ala) variant details
- p.Pro71Ala
- ExAC rs775240284
- TOPMed rs775240284
- gnomAD rs775240284
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available