L21F (p.Leu21Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
L21F (p.Leu21Phe) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs11168349
- ClinGen CA236497872
- ClinVar RCV003053622
- Ensembl rs11168349
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.30
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available