S40N (p.Ser40Asn) variant of KDM6A (Lysine-specific demethylase 6A)
S40N (p.Ser40Asn) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- gnomAD X-44873670-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available