I45V (p.Ile45Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
I45V (p.Ile45Val) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- cosmic curated COSV56000
- Ensembl rs1568925307
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.19
- CADD 0.96
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available