F107L (p.Phe107Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
F107L (p.Phe107Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F107L (p.Phe107Leu) variant details
- p.Phe107Leu
- ExAC rs778501601
- TOPMed rs778501601
- gnomAD rs778501601
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.46
- CADD 13.80
- PolyPhen-2 0.04
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available