S40R (p.Ser40Arg) variant of KDM6A (Lysine-specific demethylase 6A)
S40R (p.Ser40Arg) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- gnomAD rs1335937695
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available