P29Q (p.Pro29Gln) variant of DES (Desmin)
P29Q (p.Pro29Gln) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD 2-219418548-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available