S38P (p.Ser38Pro) variant of KDM6A (Lysine-specific demethylase 6A)
S38P (p.Ser38Pro) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- Ensembl rs2146443588
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available