G51R (p.Gly51Arg) variant of KDM6A (Lysine-specific demethylase 6A)
G51R (p.Gly51Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- gnomAD X-44873702-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 27.00
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.5e-06)
- Structural context available
- Literature evidence available