A69T (p.Ala69Thr) variant of FBN2 (Fibrillin-2)
A69T (p.Ala69Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs1204905357
- NCI-TCGA Cosmic COSV5254
- cosmic curated COSV52549
- Ensembl rs1204905357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.07
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available