P11A (p.Pro11Ala) variant of DNM1 (Dynamin-1)
P11A (p.Pro11Ala) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 9-128203501-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.71
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available