E185G (p.Glu185Gly) variant of SHTN1 (Shootin-1)
E185G (p.Glu185Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E185G (p.Glu185Gly) variant details
- p.Glu185Gly
- TOPMed rs1196125539
- gnomAD rs1196125539
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.55
- MetaSVM 0.12
- CADD 28.90
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available