K8R (p.Lys8Arg) variant of SHTN1 (Shootin-1)
K8R (p.Lys8Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- ExAC rs746080176
- TOPMed rs746080176
- gnomAD rs746080176
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.23
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available