P22P (p.Pro22Pro) variant of DES (Desmin)
P22P (p.Pro22Pro) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P22P (p.Pro22Pro) variant details
- p.Pro22Pro
- rs767502653
- gnomAD 2-219418528-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.47
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available