V193L (p.Val193Leu) variant of SHTN1 (Shootin-1)
V193L (p.Val193Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V193L (p.Val193Leu) variant details
- p.Val193Leu
- TOPMed rs1849680885
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.08
- MetaSVM -1.13
- CADD 24.50
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available