F68L (p.Phe68Leu) variant of SHTN1 (Shootin-1)
F68L (p.Phe68Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- ExAC rs767797221
- TOPMed rs767797221
- gnomAD rs767797221
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.53
- MetaSVM -0.37
- CADD 15.90
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available