V154I (p.Val154Ile) variant of SHTN1 (Shootin-1)
V154I (p.Val154Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V154I (p.Val154Ile) variant details
- p.Val154Ile
- ExAC rs746876466
- TOPMed rs746876466
- gnomAD rs746876466
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.09
- CADD 13.60
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available