I57V (p.Ile57Val) variant of KMT2E (Histone reader KMT2E)
I57V (p.Ile57Val) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- cosmic curated COSV57570
- ExAC rs759950275
- TOPMed rs759950275
- gnomAD rs759950275
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available