T126I (p.Thr126Ile) variant of SHTN1 (Shootin-1)
T126I (p.Thr126Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T126I (p.Thr126Ile) variant details
- p.Thr126Ile
- TOPMed rs1849889101
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.62
- MetaSVM -0.34
- CADD 13.80
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available