I60F (p.Ile60Phe) variant of COL1A1 (Collagen alpha-1(I) chain)
I60F (p.Ile60Phe) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I60F (p.Ile60Phe) variant details
- p.Ile60Phe
- rs544922468
- ClinGen CA8645815
- ClinVar RCV002286018
- ClinVar RCV005096049
- Conflicting interpretations
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 24.10
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta type I)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)