S81S (p.Ser81Ser) variant of KMT2E (Histone reader KMT2E)
S81S (p.Ser81Ser) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S81S (p.Ser81Ser) variant details
- p.Ser81Ser
- rs1251266737
- gnomAD 7-105063407-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available