P49T (p.Pro49Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
P49T (p.Pro49Thr) 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; not specified; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- rs760571966
- ClinGen CA4346534
- ClinVar RCV003037007
- ClinVar RCV003059900
- Uncertain significance
- not provided; not specified; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified; Ehlers-Danlos syndrome, classic typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)