S67N (p.Ser67Asn) variant of KDM6B (Lysine-specific demethylase 6B)
S67N (p.Ser67Asn) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- ExAC rs766687897
- gnomAD rs766687897
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available