T26M (p.Thr26Met) variant of FBN2 (Fibrillin-2)
T26M (p.Thr26Met) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T26M (p.Thr26Met) variant details
- p.Thr26Met
- cosmic curated COSV52499
- gnomAD rs1354275606
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available