A31V (p.Ala31Val) variant of FBN1 (Fibrillin-1)
A31V (p.Ala31Val) 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.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57310
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.18
- MetaLR 0.30
- MetaSVM -0.83
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00044)