L12P (p.Leu12Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
L12P (p.Leu12Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 21-45981885-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- MetaLR 0.54
- MetaSVM 0.04
- CADD 25.00
- PolyPhen-2 0.72
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available