Q155R (p.Gln155Arg) variant of SHTN1 (Shootin-1)
Q155R (p.Gln155Arg) 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.
Q155R (p.Gln155Arg) variant details
- p.Gln155Arg
- ExAC rs779079783
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.12
- ESM-1b 0.96
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -0.84
- CADD 22.50
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available