P21L (p.Pro21Leu) variant of SPAST (Spastin)
P21L (p.Pro21Leu) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- TOPMed rs1305710044
- gnomAD rs1305710044
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available