M17L (p.Met17Leu) variant of DSP (Desmoplakin)
M17L (p.Met17Leu) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
M17L (p.Met17Leu) variant details
- p.Met17Leu
- gnomAD 6-7541964-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.08
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available