S40I (p.Ser40Ile) variant of KDM6A (Lysine-specific demethylase 6A)
S40I (p.Ser40Ile) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- gnomAD X-44873670-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available