S34N (p.Ser34Asn) variant of KDM6A (Lysine-specific demethylase 6A)
S34N (p.Ser34Asn) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- gnomAD X-44873652-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available