P55S (p.Pro55Ser) variant of KMT2D (O14686)
P55S (p.Pro55Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs1314970592
- ClinGen CA384689771
- ClinVar RCV002008566
- TOPMed rs1314970592
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.39
- MetaLR 0.25
- MetaSVM -0.79
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)