P38A (p.Pro38Ala) variant of SPAST (Spastin)
P38A (p.Pro38Ala) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- gnomAD rs1219971550
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.83
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available