V17I (p.Val17Ile) variant of COL2A1 (Collagen alpha-1(II) chain)
V17I (p.Val17Ile) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- 1000Genomes rs1370410549
- gnomAD rs1370410549
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.17
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available