A13A (p.Ala13Ala) variant of KDM6B (Lysine-specific demethylase 6B)
A13A (p.Ala13Ala) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 17-7845593-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 14.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available