L14L (p.Leu14Leu) variant of DSP (Desmoplakin)
L14L (p.Leu14Leu) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1757990829
- gnomAD 6-7541957-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available