P11R (p.Pro11Arg) variant of DNM1 (Dynamin-1)
P11R (p.Pro11Arg) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- ExAC rs775423550
- gnomAD rs775423550
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.83
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available