H21Y (p.His21Tyr) variant of COL1A1 (Collagen alpha-1(I) chain)
H21Y (p.His21Tyr) 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 Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H21Y (p.His21Tyr) variant details
- p.His21Tyr
- rs777150332
- ClinGen CA8645886
- ClinVar RCV001768806
- ClinVar RCV003631216
- Conflicting interpretations
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.50
- PolyPhen-2 0.20
- SIFT 0.98
- ClinVar: Conflicting classifications of pathogenicity (Osteogenesis imperfecta type I; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)