P31L (p.Pro31Leu) variant of SPAST (Spastin)
P31L (p.Pro31Leu) in SPAST (Spastin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available