A22V (p.Ala22Val) variant of DNM1 (Dynamin-1)
A22V (p.Ala22Val) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD rs1245923175
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available