T14S (p.Thr14Ser) variant of SHTN1 (Shootin-1)
T14S (p.Thr14Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- ExAC rs747181032
- TOPMed rs747181032
- gnomAD rs747181032
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available