V20L (p.Val20Leu) variant of SPAST (Spastin)
V20L (p.Val20Leu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- Ensembl rs931391628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available