S31R (p.Ser31Arg) variant of KDM6A (Lysine-specific demethylase 6A)
S31R (p.Ser31Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- gnomAD X-44873644-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available