S3N (p.Ser3Asn) variant of KMT2D (O14686)
S3N (p.Ser3Asn) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- TOPMed rs1451360303
- gnomAD rs1451360303
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.43
- MetaLR 0.20
- MetaSVM -0.93
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available