I24M (p.Ile24Met) variant of DSC2 (Desmocollin-2)
I24M (p.Ile24Met) in DSC2 (Desmocollin-2) 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 0.23 / 1. The record also includes population frequency data and structural context.
I24M (p.Ile24Met) variant details
- p.Ile24Met
- ExAC rs757826575
- gnomAD rs757826575
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.19
- CADD 21.00
- PolyPhen-2 0.47
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available