G61S (p.Gly61Ser) variant of KMT2D (O14686)
G61S (p.Gly61Ser) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G61S (p.Gly61Ser) variant details
- p.Gly61Ser
- rs1938304119
- ClinGen CA384689395
- ClinVar RCV001336043
- ClinVar RCV003120561
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.32
- MetaLR 0.23
- MetaSVM -0.77
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)