A4V (p.Ala4Val) variant of KDM6B (Lysine-specific demethylase 6B)
A4V (p.Ala4Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 17-7845565-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.14
- CADD 28.10
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available