A10T (p.Ala10Thr) variant of FBN1 (Fibrillin-1)
A10T (p.Ala10Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57316
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.83
- CADD 7.40
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)