L14F (p.Leu14Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
L14F (p.Leu14Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD rs1239855488
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.41
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available