A30G (p.Ala30Gly) variant of KMT2A (Q03164)
A30G (p.Ala30Gly) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- rs9332745
- ClinGen CA172406
- ClinVar RCV000146147
- ClinVar RCV000442939
- Benign/Likely benign
- not specified; not provided
- Missense
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.80
- CADD 22.90
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs9332745)
- UniProt: Benign (in dbSNP:rs9332745)
- Most common in the HGDP:FRENCH population (allele frequency 0.042)
- Cited in: Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute… (PMID 8703835)