V19M (p.Val19Met) variant of FBN2 (Fibrillin-2)
V19M (p.Val19Met) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- rs1357709072
- ClinGen CA360763244
- ClinVar RCV001995419
- TOPMed rs1357709072
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)