T24R (p.Thr24Arg) variant of DBH (Dopamine beta-hydroxylase)
T24R (p.Thr24Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- gnomAD rs1832053124
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.39
- MetaLR 0.31
- MetaSVM -0.41
- CADD 24.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available