S31P (p.Ser31Pro) variant of KMT2D (O14686)
S31P (p.Ser31Pro) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- rs1938321808
- ClinGen CA384690737
- ClinVar RCV001336574
- ClinVar RCV004531124
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.32
- MetaLR 0.19
- MetaSVM -0.92
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)