V179I (p.Val179Ile) variant of SHTN1 (Shootin-1)
V179I (p.Val179Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V179I (p.Val179Ile) variant details
- p.Val179Ile
- gnomAD rs1185216161
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.08
- MetaSVM -1.13
- CADD 26.60
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available