V20I (p.Val20Ile) variant of COL2A1 (Collagen alpha-1(II) chain)
V20I (p.Val20Ile) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- TOPMed rs911368398
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.79
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available