I32N (p.Ile32Asn) variant of DBH (Dopamine beta-hydroxylase)
I32N (p.Ile32Asn) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I32N (p.Ile32Asn) variant details
- p.Ile32Asn
- gnomAD rs1368994812
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- MetaLR 0.27
- MetaSVM -0.51
- CADD 28.10
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available