Q184K (p.Gln184Lys) variant of SHTN1 (Shootin-1)
Q184K (p.Gln184Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q184K (p.Gln184Lys) variant details
- p.Gln184Lys
- gnomAD rs1252820808
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.83
- CADD 22.10
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available