V62L (p.Val62Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
V62L (p.Val62Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- ExAC rs748537902
- TOPMed rs748537902
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.37
- CADD 20.70
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available