S34R (p.Ser34Arg) variant of KDM6A (Lysine-specific demethylase 6A)
S34R (p.Ser34Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- Ensembl rs2146443355
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 23.70
- PolyPhen-2 0.72
- SIFT 0.01
- Population evidence available
- Structural context available