D46E (p.Asp46Glu) variant of SHTN1 (Shootin-1)
D46E (p.Asp46Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD rs1850488231
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available