A30V (p.Ala30Val) variant of KMT2A (Q03164)
A30V (p.Ala30Val) 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. The record also includes variant effect predictions and population frequency data.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs9332745
- ClinGen CA382797126
- ClinVar RCV001961433
- 1000Genomes rs9332745
- Uncertain significance
- not provided
- Missense
- REVEL 0.17
- MetaLR 0.41
- MetaSVM -0.57
- CADD 23.20
- PolyPhen-2 0.74
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in dbSNP:rs9332745)
- UniProt: Benign (in dbSNP:rs9332745)
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.3e-05)