D25N (p.Asp25Asn) variant of SMO (Protein smoothened)
D25N (p.Asp25Asn) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- Ensembl rs979704684
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.94
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available