S49S (p.Ser49Ser) variant of KMT2E (Histone reader KMT2E)
S49S (p.Ser49Ser) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs1264157083
- gnomAD 7-105062239-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 10.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available