P23Q (p.Pro23Gln) variant of COL6A1 (Collagen alpha-1(VI) chain)
P23Q (p.Pro23Gln) in COL6A1 (Collagen alpha-1(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 published literature.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- gnomAD 21-45981918-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.11
- MetaLR 0.32
- MetaSVM -0.76
- CADD 2.81
- PolyPhen-2 0.02
- SIFT 0.68
- Population evidence available
- Literature evidence available