M17I (p.Met17Ile) variant of DSP (Desmoplakin)
M17I (p.Met17Ile) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M17I (p.Met17Ile) variant details
- p.Met17Ile
- gnomAD rs1378426464
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.76
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available