D26G (p.Asp26Gly) variant of SHTN1 (Shootin-1)
D26G (p.Asp26Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D26G (p.Asp26Gly) variant details
- p.Asp26Gly
- 1000Genomes rs536588157
- ExAC rs536588157
- gnomAD rs536588157
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.85
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available