H72R (p.His72Arg) variant of SHTN1 (Shootin-1)
H72R (p.His72Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H72R (p.His72Arg) variant details
- p.His72Arg
- ESP rs375325575
- ExAC rs375325575
- TOPMed rs375325575
- gnomAD rs375325575
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.77
- MetaSVM 0.59
- CADD 25.50
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available