K181E (p.Lys181Glu) variant of SHTN1 (Shootin-1)
K181E (p.Lys181Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K181E (p.Lys181Glu) variant details
- p.Lys181Glu
- TOPMed rs1849682344
- gnomAD rs1849682344
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.65
- CADD 22.80
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available