V182I (p.Val182Ile) variant of SHTN1 (Shootin-1)
V182I (p.Val182Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V182I (p.Val182Ile) variant details
- p.Val182Ile
- TOPMed rs1039588292
- gnomAD rs1039588292
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.56
- CADD 20.90
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available