E18K (p.Glu18Lys) variant of SHTN1 (Shootin-1)
E18K (p.Glu18Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV10502
- ExAC rs778394525
- TOPMed rs778394525
- gnomAD rs778394525
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available