T96M (p.Thr96Met) variant of SHTN1 (Shootin-1)
T96M (p.Thr96Met) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T96M (p.Thr96Met) variant details
- p.Thr96Met
- cosmic curated COSV53383
- 1000Genomes rs540474097
- ExAC rs540474097
- TOPMed rs540474097
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.81
- MetaSVM 0.68
- CADD 26.30
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available