L12R (p.Leu12Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
L12R (p.Leu12Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- 1000Genomes rs2153500015
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.63
- MetaLR 0.60
- MetaSVM 0.34
- CADD 27.70
- SIFT 0.05
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available