P19del (p.Pro19del) variant of SPAST (Spastin)
P19del (p.Pro19del) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P19del (p.Pro19del) variant details
- rs778861675
- gnomAD 2-32063885-CCCG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 20.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available