I112T (p.Ile112Thr) variant of COL6A3 (Collagen alpha-3(VI) chain)
I112T (p.Ile112Thr) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I112T (p.Ile112Thr) variant details
- p.Ile112Thr
- ESP rs375590099
- ExAC rs375590099
- gnomAD rs375590099
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.93
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available