V199L (p.Val199Leu) variant of SHTN1 (Shootin-1)
V199L (p.Val199Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V199L (p.Val199Leu) variant details
- p.Val199Leu
- TOPMed rs1481936754
- gnomAD rs1481936754
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.06
- CADD 13.70
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available