L45V (p.Leu45Val) variant of COL1A1 (Collagen alpha-1(I) chain)
L45V (p.Leu45Val) 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 specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs546629502
- ClinGen CA8645825
- ClinVar RCV001577889
- ClinVar RCV002569095
- Conflicting interpretations
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)