V38I (p.Val38Ile) variant of HADHB (P55084)
V38I (p.Val38Ile) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- gnomAD 2-26263382-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.19
- CADD 6.34
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available