T34R (p.Thr34Arg) variant of SHTN1 (Shootin-1)
T34R (p.Thr34Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- ExAC rs774259616
- TOPMed rs774259616
- gnomAD rs774259616
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available