I112F (p.Ile112Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)
I112F (p.Ile112Phe) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I112F (p.Ile112Phe) variant details
- p.Ile112Phe
- gnomAD rs1156610137
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.92
- CADD 4.63
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available