E47K (p.Glu47Lys) variant of SHTN1 (Shootin-1)
E47K (p.Glu47Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- 1000Genomes rs561840863
- ExAC rs561840863
- gnomAD rs561840863
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 29.80
- PolyPhen-2 0.94
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available