S29N (p.Ser29Asn) variant of KDM6B (Lysine-specific demethylase 6B)
S29N (p.Ser29Asn) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S29N (p.Ser29Asn) variant details
- p.Ser29Asn
- ExAC rs754814272
- gnomAD rs754814272
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available