A49A (p.Ala49Ala) variant of KDM6B (Lysine-specific demethylase 6B)
A49A (p.Ala49Ala) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- gnomAD 17-7845881-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available