L8V (p.Leu8Val) variant of KDM6A (Lysine-specific demethylase 6A)
L8V (p.Leu8Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD X-44873573-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 19.40
- PolyPhen-2 0.30
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available