P29S (p.Pro29Ser) variant of DES (Desmin)
P29S (p.Pro29Ser) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- gnomAD 2-219418547-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.24
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available