G22A (p.Gly22Ala) variant of KMT2A (Q03164)
G22A (p.Gly22Ala) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- rs1555138487
- ClinGen CA382796995
- ClinVar RCV003398161
- ClinVar RCV004985357
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.10
- MetaLR 0.31
- MetaSVM -0.77
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)