R4C (p.Arg4Cys) variant of DNM1 (Dynamin-1)
R4C (p.Arg4Cys) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- Ensembl rs986129698
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.68
- CADD 30.00
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available