V74I (p.Val74Ile) variant of FBN2 (Fibrillin-2)
V74I (p.Val74Ile) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs779812100
- ClinGen CA3396201
- cosmic curated COSV52510
- ClinVar RCV001320094
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)