I21T (p.Ile21Thr) variant of SHTN1 (Shootin-1)
I21T (p.Ile21Thr) 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.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- TOPMed rs1024521250
- gnomAD rs1024521250
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available