S3F (p.Ser3Phe) variant of KDM6A (Lysine-specific demethylase 6A)
S3F (p.Ser3Phe) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- ExAC rs778311486
- gnomAD rs778311486
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available