T128K (p.Thr128Lys) variant of SHTN1 (Shootin-1)
T128K (p.Thr128Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
T128K (p.Thr128Lys) variant details
- p.Thr128Lys
- TOPMed rs1210304204
- gnomAD rs1210304204
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.07
- CADD 17.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available