E133K (p.Glu133Lys) variant of SHTN1 (Shootin-1)
E133K (p.Glu133Lys) 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 0.21 / 1. The record also includes population frequency data and structural context.
E133K (p.Glu133Lys) variant details
- p.Glu133Lys
- ESP rs140946996
- ExAC rs140946996
- TOPMed rs140946996
- gnomAD rs140946996
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.07
- CADD 17.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available