V173I (p.Val173Ile) variant of SHTN1 (Shootin-1)
V173I (p.Val173Ile) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V173I (p.Val173Ile) variant details
- p.Val173Ile
- rs551678925
- ClinGen CA5709395
- ClinVar RCV004128299
- ExAC rs551678925
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.34
- MetaSVM -0.60
- CADD 14.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available