L10P (p.Leu10Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
L10P (p.Leu10Pro) 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.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 21-45981879-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.73
- MetaLR 0.59
- MetaSVM 0.02
- CADD 26.10
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available