N35S (p.Asn35Ser) variant of KMT2D (O14686)
N35S (p.Asn35Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N35S (p.Asn35Ser) variant details
- p.Asn35Ser
- ExAC rs757397817
- TOPMed rs757397817
- gnomAD rs757397817
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.34
- MetaLR 0.19
- MetaSVM -0.92
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (Kabuki syndrome)
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available