P36R (p.Pro36Arg) variant of DES (Desmin)
P36R (p.Pro36Arg) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P36R (p.Pro36Arg) variant details
- p.Pro36Arg
- ExAC rs750861089
- gnomAD rs750861089
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.42
- CADD 22.50
- PolyPhen-2 0.57
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available