L8I (p.Leu8Ile) variant of KDM6A (Lysine-specific demethylase 6A)
L8I (p.Leu8Ile) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L8I (p.Leu8Ile) variant details
- p.Leu8Ile
- gnomAD X-44873573-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 22.90
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available