D127H (p.Asp127His) variant of SHTN1 (Shootin-1)
D127H (p.Asp127His) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D127H (p.Asp127His) variant details
- p.Asp127His
- ExAC rs759981170
- gnomAD rs759981170
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.36
- ESM-1b 0.73
- AlphaMissense 0.13
- MetaLR 0.78
- MetaSVM 0.61
- CADD 24.50
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available