S50S (p.Ser50Ser) variant of KMT2E (Histone reader KMT2E)
S50S (p.Ser50Ser) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- rs2129567139
- gnomAD 7-105062242-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.08
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available
- Literature evidence available