S23S (p.Ser23Ser) variant of KMT2E (Histone reader KMT2E)
S23S (p.Ser23Ser) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- rs1186370216
- gnomAD 7-105041021-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 19.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available