T94I (p.Thr94Ile) variant of KMT2E (Histone reader KMT2E)
T94I (p.Thr94Ile) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- rs755868274
- ClinGen CA4423660
- ClinVar RCV003878792
- ExAC rs755868274
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available