P55H (p.Pro55His) variant of COL1A1 (Collagen alpha-1(I) chain)
P55H (p.Pro55His) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P55H (p.Pro55His) variant details
- p.Pro55His
- rs771489142
- ClinGen CA8645819
- ClinVar RCV001233236
- ClinVar RCV005367777
- Uncertain significance
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)