P43P (p.Pro43Pro) variant of KDM6B (Lysine-specific demethylase 6B)
P43P (p.Pro43Pro) in KDM6B (Lysine-specific demethylase 6B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P43P (p.Pro43Pro) variant details
- p.Pro43Pro
- rs2078517831
- gnomAD 17-7845683-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 12.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available