E116K (p.Glu116Lys) variant of SHTN1 (Shootin-1)
E116K (p.Glu116Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- TOPMed rs1373094238
- gnomAD rs1373094238
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.82
- MetaSVM 0.60
- CADD 23.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available