L41P (p.Leu41Pro) variant of KDM6A (Lysine-specific demethylase 6A)
L41P (p.Leu41Pro) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- gnomAD X-44873673-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available