A27S (p.Ala27Ser) variant of DNM1 (Dynamin-1)
A27S (p.Ala27Ser) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD rs1211113169
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available