Q33R (p.Gln33Arg) variant of DNM1 (Dynamin-1)
Q33R (p.Gln33Arg) 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.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- ExAC rs752123322
- gnomAD rs752123322
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.89
- CADD 28.80
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available