L12F (p.Leu12Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
L12F (p.Leu12Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD 2-188974523-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.29
- MetaLR 0.48
- MetaSVM -0.52
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available