P15S (p.Pro15Ser) variant of KMT2D (O14686)
P15S (p.Pro15Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs1002765819
- ClinGen CA236624813
- ClinVar RCV001952643
- TOPMed rs1002765819
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- MetaLR 0.26
- MetaSVM -0.78
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)