L32I (p.Leu32Ile) variant of HADHB (P55084)
L32I (p.Leu32Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- gnomAD 2-26254459-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available