V173L (p.Val173Leu) variant of SHTN1 (Shootin-1)
V173L (p.Val173Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
V173L (p.Val173Leu) variant details
- p.Val173Leu
- ExAC rs551678925
- TOPMed rs551678925
- gnomAD rs551678925
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.32
- MetaSVM -0.71
- CADD 15.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available