S3Y (p.Ser3Tyr) variant of SPAST (Spastin)
S3Y (p.Ser3Tyr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD rs1271058224
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.46
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available