M15I (p.Met15Ile) variant of DBH (Dopamine beta-hydroxylase)
M15I (p.Met15Ile) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- gnomAD 9-133636416-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.00
- CADD 0.82
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available