T78S (p.Thr78Ser) variant of SHTN1 (Shootin-1)
T78S (p.Thr78Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- gnomAD rs1348548048
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.53
- MetaSVM -0.10
- CADD 20.60
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available