T96K (p.Thr96Lys) variant of SHTN1 (Shootin-1)
T96K (p.Thr96Lys) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
T96K (p.Thr96Lys) variant details
- p.Thr96Lys
- 1000Genomes rs540474097
- ExAC rs540474097
- TOPMed rs540474097
- gnomAD rs540474097
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.66
- MetaSVM 0.09
- CADD 23.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available