P38S (p.Pro38Ser) variant of SPAST (Spastin)
P38S (p.Pro38Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD 2-32063943-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.68
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available