L147F (p.Leu147Phe) variant of SHTN1 (Shootin-1)
L147F (p.Leu147Phe) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L147F (p.Leu147Phe) variant details
- p.Leu147Phe
- gnomAD rs1246254394
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.21
- MetaSVM -0.73
- CADD 26.50
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available