Y12H (p.Tyr12His) variant of FBN2 (Fibrillin-2)
Y12H (p.Tyr12His) in FBN2 (Fibrillin-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 0.40 / 1. The record also includes population frequency data and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available