F112I (p.Phe112Ile) variant of DSC2 (Desmocollin-2)
F112I (p.Phe112Ile) in DSC2 (Desmocollin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F112I (p.Phe112Ile) variant details
- p.Phe112Ile
- NCI-TCGA Cosmic COSV5186
- cosmic curated COSV51862
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.04
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available