L2F (p.Leu2Phe) variant of DMD (Dystrophin)
L2F (p.Leu2Phe) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- gnomAD rs1307612793
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available