S31R (p.Ser31Arg) variant of KMT2E (Histone reader KMT2E)
S31R (p.Ser31Arg) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- Ensembl rs1796842185
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.69
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available