V56L (p.Val56Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
V56L (p.Val56Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- gnomAD rs1940157547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available