R3Q (p.Arg3Gln) variant of KDM6B (Lysine-specific demethylase 6B)
R3Q (p.Arg3Gln) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- cosmic curated COSV10583
- ExAC rs752757203
- gnomAD rs752757203
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -0.95
- CADD 29.60
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available