E23K (p.Glu23Lys) variant of SHTN1 (Shootin-1)
E23K (p.Glu23Lys) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs765922322
- ExAC rs765922322
- TOPMed rs765922322
- gnomAD rs765922322
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.39
- ESM-1b 0.23
- AlphaMissense 0.52
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available