D25G (p.Asp25Gly) variant of SMO (Protein smoothened)
D25G (p.Asp25Gly) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- rs41304185
- ClinGen CA4479060
- ClinVar RCV000947070
- 1000Genomes rs41304185
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- MetaLR 0.00
- MetaSVM -1.11
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.41)
- Structural context available