P72L (p.Pro72Leu) variant of KMT2E (Histone reader KMT2E)
P72L (p.Pro72Leu) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs747436302
- ClinGen CA368774393
- cosmic curated COSV57576
- ClinVar RCV003013216
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.54
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available