E18V (p.Glu18Val) variant of SHTN1 (Shootin-1)
E18V (p.Glu18Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- gnomAD rs1414235601
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.61
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available