P40T (p.Pro40Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
P40T (p.Pro40Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs1363689462
- ClinGen CA368219068
- ClinVar RCV002277972
- TOPMed rs1363689462
- Uncertain significance
- Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)