P36P (p.Pro36Pro) variant of DES (Desmin)
P36P (p.Pro36Pro) in DES (Desmin) is a synonymous 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.
P36P (p.Pro36Pro) variant details
- p.Pro36Pro
- rs1575013004
- gnomAD 2-219418570-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.54
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available