L8F (p.Leu8Phe) variant of SPG7 (Q9UQ90)
L8F (p.Leu8Phe) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- cosmic curated COSV10958
- ExAC rs773745485
- TOPMed rs773745485
- gnomAD rs773745485
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 11.50
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available