V138A (p.Val138Ala) variant of SHTN1 (Shootin-1)
V138A (p.Val138Ala) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V138A (p.Val138Ala) variant details
- p.Val138Ala
- TOPMed rs1358279846
- gnomAD rs1358279846
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.14
- ESM-1b 0.07
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.02
- CADD 20.70
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available