L16F (p.Leu16Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
L16F (p.Leu16Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The record also includes structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- cosmic curated COSV10735
- NCI-TCGA TCGA novel
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- UniProt: Uncertain significance
- Structural context available