E164K (p.Glu164Lys) variant of SHTN1 (Shootin-1)
E164K (p.Glu164Lys) in SHTN1 (Shootin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E164K (p.Glu164Lys) variant details
- p.Glu164Lys
- rs1309471471
- TOPMed rs1309471471
- gnomAD rs1309471471
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.50
- MetaSVM -0.25
- CADD 25.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available