D121A (p.Asp121Ala) variant of SHTN1 (Shootin-1)
D121A (p.Asp121Ala) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D121A (p.Asp121Ala) variant details
- p.Asp121Ala
- TOPMed rs1208348591
- gnomAD rs1208348591
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.62
- MetaSVM 0.08
- CADD 21.30
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available