S49G (p.Ser49Gly) variant of KMT2E (Histone reader KMT2E)
S49G (p.Ser49Gly) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- ExAC rs746732435
- gnomAD rs746732435
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.34
- SIFT 0.10
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available