S48G (p.Ser48Gly) variant of KMT2E (Histone reader KMT2E)
S48G (p.Ser48Gly) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- rs780152679
- ClinGen CA4423620
- ClinVar RCV003873685
- ClinVar RCV003949079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.38
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available