P26S (p.Pro26Ser) variant of SPAST (Spastin)
P26S (p.Pro26Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- ExAC rs780359337
- gnomAD rs780359337
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.33
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available