S85G (p.Ser85Gly) variant of KMT2E (Histone reader KMT2E)
S85G (p.Ser85Gly) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S85G (p.Ser85Gly) variant details
- p.Ser85Gly
- Ensembl rs2129567227
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.16
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available