I57T (p.Ile57Thr) variant of KMT2E (Histone reader KMT2E)
I57T (p.Ile57Thr) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I57T (p.Ile57Thr) variant details
- p.Ile57Thr
- rs767958893
- ClinGen CA4423628
- ClinVar RCV002970725
- ClinVar RCV005655133
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)