F18V (p.Phe18Val) variant of KDM6A (Lysine-specific demethylase 6A)
F18V (p.Phe18Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- gnomAD X-44873603-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available