E6K (p.Glu6Lys) variant of SHTN1 (Shootin-1)
E6K (p.Glu6Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1303864887
- gnomAD rs1303864887
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 23.40
- PolyPhen-2 0.39
- SIFT 0.46
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available