A30V (p.Ala30Val) variant of KDM6A (Lysine-specific demethylase 6A)
A30V (p.Ala30Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- cosmic curated COSV65046
- gnomAD rs1394985803
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available