P54P (p.Pro54Pro) variant of KDM6B (Lysine-specific demethylase 6B)
P54P (p.Pro54Pro) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P54P (p.Pro54Pro) variant details
- p.Pro54Pro
- rs777295095
- gnomAD 17-7845896-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 9.38
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available