P11Q (p.Pro11Gln) variant of DNM1 (Dynamin-1)
P11Q (p.Pro11Gln) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- ExAC rs775423550
- gnomAD rs775423550
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.78
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available