F55L (p.Phe55Leu) variant of SHTN1 (Shootin-1)
F55L (p.Phe55Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- TOPMed rs1850487273
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.60
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available