K24Q (p.Lys24Gln) variant of KDM6A (Lysine-specific demethylase 6A)
K24Q (p.Lys24Gln) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K24Q (p.Lys24Gln) variant details
- p.Lys24Gln
- gnomAD rs1186964201
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available