A30T (p.Ala30Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A30T (p.Ala30Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs6529
- ClinGen CA160284
- cosmic curated COSV65039
- ClinVar RCV000121284
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.09
- EBI: Benign (in dbSNP:rs6529)
- UniProt: Benign (in dbSNP:rs6529)
- Most common in the 1KG:ESN population (allele frequency 0.013)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)