S4L (p.Ser4Leu) variant of SHTN1 (Shootin-1)
S4L (p.Ser4Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- TOPMed rs1416385575
- gnomAD rs1416385575
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available