V82M (p.Val82Met) variant of FBN2 (Fibrillin-2)
V82M (p.Val82Met) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V82M (p.Val82Met) variant details
- p.Val82Met
- rs550387143
- ClinGen CA3396199
- ClinVar RCV002311175
- ClinVar RCV002518726
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.23
- CADD 21.80
- PolyPhen-2 0.08
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)