R16L (p.Arg16Leu) variant of DSP (Desmoplakin)
R16L (p.Arg16Leu) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- ExAC rs752387234
- TOPMed rs752387234
- gnomAD rs752387234
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.48
- MetaLR 0.34
- MetaSVM -0.24
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available