I113T (p.Ile113Thr) variant of SHTN1 (Shootin-1)
I113T (p.Ile113Thr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I113T (p.Ile113Thr) variant details
- p.Ile113Thr
- gnomAD rs1452330608
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.47
- MetaSVM -0.30
- CADD 26.00
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available