K8T (p.Lys8Thr) variant of SHTN1 (Shootin-1)
K8T (p.Lys8Thr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K8T (p.Lys8Thr) variant details
- p.Lys8Thr
- ExAC rs746080176
- TOPMed rs746080176
- gnomAD rs746080176
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available