Q95H (p.Gln95His) variant of SMAD2 (SMAD family member 2)
Q95H (p.Gln95His) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q95H (p.Gln95His) variant details
- p.Gln95His
- NCI-TCGA TCGA novel
- Ensembl rs2144384397
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.85
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available