L45V (p.Leu45Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
L45V (p.Leu45Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs1038296607
- ClinGen CA27756414
- ClinVar RCV002597825
- TOPMed rs1038296607
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 20.90
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available