D25H (p.Asp25His) variant of SMO (Protein smoothened)
D25H (p.Asp25His) 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 0.32 / 1. The record also includes population frequency data and structural context.
D25H (p.Asp25His) variant details
- p.Asp25His
- Ensembl rs979704684
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- MetaLR 0.21
- MetaSVM -0.93
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.5e-05)
- Structural context available