G28V (p.Gly28Val) variant of KDM6A (Lysine-specific demethylase 6A)
G28V (p.Gly28Val) 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.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD X-44873634-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available