K92E (p.Lys92Glu) variant of SHTN1 (Shootin-1)
K92E (p.Lys92Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
K92E (p.Lys92Glu) variant details
- p.Lys92Glu
- ExAC rs747394357
- gnomAD rs747394357
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.80
- MetaSVM 0.56
- CADD 24.20
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available