A48T (p.Ala48Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A48T (p.Ala48Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD X-44873693-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.30
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available