T128S (p.Thr128Ser) variant of SHTN1 (Shootin-1)
T128S (p.Thr128Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T128S (p.Thr128Ser) variant details
- p.Thr128Ser
- ExAC rs766942469
- TOPMed rs766942469
- gnomAD rs766942469
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.95
- CADD 4.57
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available