S45G (p.Ser45Gly) variant of KMT2D (O14686)
S45G (p.Ser45Gly) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S45G (p.Ser45Gly) variant details
- p.Ser45Gly
- ExAC rs760258777
- TOPMed rs760258777
- gnomAD rs760258777
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.30
- MetaLR 0.23
- MetaSVM -0.88
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available