P47L (p.Pro47Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
P47L (p.Pro47Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- gnomAD 2-188984820-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.80
- MetaLR 0.61
- MetaSVM 0.34
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available