S38F (p.Ser38Phe) variant of KDM6A (Lysine-specific demethylase 6A)
S38F (p.Ser38Phe) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- gnomAD X-44873664-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 22.60
- PolyPhen-2 0.75
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available