S4W (p.Ser4Trp) variant of SHTN1 (Shootin-1)
S4W (p.Ser4Trp) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S4W (p.Ser4Trp) variant details
- p.Ser4Trp
- TOPMed rs1416385575
- gnomAD rs1416385575
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.45
- ESM-1b 0.54
- AlphaMissense 0.56
- CADD 29.40
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available