L17F (p.Leu17Phe) variant of COL1A2 (Collagen alpha-2(I) chain)
L17F (p.Leu17Phe) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- NCI-TCGA TCGA novel
- Ensembl rs2115842741
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.28
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.043)
- Structural context available