I163T (p.Ile163Thr) variant of SHTN1 (Shootin-1)
I163T (p.Ile163Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
I163T (p.Ile163Thr) variant details
- p.Ile163Thr
- ExAC rs750879250
- TOPMed rs750879250
- gnomAD rs750879250
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.97
- CADD 23.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available