M21I (p.Met21Ile) variant of DBH (Dopamine beta-hydroxylase)
M21I (p.Met21Ile) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- gnomAD 9-133636434-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.82
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available