P29P (p.Pro29Pro) variant of DES (Desmin)
P29P (p.Pro29Pro) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P29P (p.Pro29Pro) variant details
- p.Pro29Pro
- rs2125165803
- gnomAD 2-219418549-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available