P57A (p.Pro57Ala) variant of KDM6B (Lysine-specific demethylase 6B)
P57A (p.Pro57Ala) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- gnomAD 17-7845903-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.11
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available