I23M (p.Ile23Met) variant of HADHB (P55084)
I23M (p.Ile23Met) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I23M (p.Ile23Met) variant details
- p.Ile23Met
- ExAC rs764494047
- gnomAD rs764494047
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.16
- CADD 9.30
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available