R4S (p.Arg4Ser) variant of DNM1 (Dynamin-1)
R4S (p.Arg4Ser) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD 9-128203480-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.53
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available