S81P (p.Ser81Pro) variant of KMT2E (Histone reader KMT2E)
S81P (p.Ser81Pro) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of O'Donnell-Luria-Rodan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S81P (p.Ser81Pro) variant details
- p.Ser81Pro
- rs1480427120
- ClinGen CA368774452
- ClinVar RCV003444500
- gnomAD rs1480427120
- Uncertain significance
- O'Donnell-Luria-Rodan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Uncertain significance (O'Donnell-Luria-Rodan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: KMT2E-Related Neurodevelopmental Disorder. (PMID 38648332)