L13F (p.Leu13Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
L13F (p.Leu13Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- gnomAD rs1303302149
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- MetaLR 0.61
- MetaSVM -0.02
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available