L168F (p.Leu168Phe) variant of SHTN1 (Shootin-1)
L168F (p.Leu168Phe) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L168F (p.Leu168Phe) variant details
- p.Leu168Phe
- ExAC rs763789922
- gnomAD rs763789922
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.13
- ESM-1b 0.32
- AlphaMissense 0.14
- MetaLR 0.54
- MetaSVM 0.08
- CADD 23.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available